WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software

http://annovar.openbioinformatics.org

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is indel splicing annotation meets the specifications HGVS？ #180

Open zhuying412 opened 2 years ago

zhuying412 commented 2 years ago

the indel splicing result is different from my perception，is it meets the specifications of HGVS?

example1:

Variant: 1:179883190-179883190:-/G
ANNOVAR: TOR1AIP1:NM_015602.3:exon9:c.964+1->G
HGVS: TOR1AIP1:NM_015602.3:exon9:c.964+1dupG

example2:

Variant: 1:179883190-179883190:-/C
ANNOVAR: TOR1AIP1:NM_015602.3:exon9:c.964+1->C
HGVS: TOR1AIP1:NM_015602.3:exon9:c.964+1_c.964+2insC

example3:

Variant: 1:179883190-179883190:G/-
ANNOVAR: TOR1AIP1:NM_015602.3:exon9:c.964+1G>-
HGVS: TOR1AIP1:NM_015602.3:exon9:c.964+1delG