Canonical Allele Identifier: CA600437041

Gene: GAB2

Linked Data

• dbSNP Id: rs11428219
• gnomAD v2: 11-78091259-CTTTT-C
• MyVariant Identifiers: chr11:g.78091260_78091263del (hg19) ; chr11:g.78380214_78380217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380223_78380226del , CM000673.2:g.78380223_78380226del	GRCh38
NC_000011.9:g.78091269_78091272del , CM000673.1:g.78091269_78091272del	GRCh37
NC_000011.8:g.77768917_77768920del	NCBI36
NG_016171.1:g.42606_42609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37429_75+37432del MANE Select	ENSP00000354952.4:n.75+37429_75+37432del
ENST00000361507.4:c.75+37429_75+37432del	ENSP00000354952.4:n.75+37429_75+37432del
ENST00000526030.1:n.177+37429_177+37432del
ENST00000528886.5:c.-40+38020_-40+38023del	ENSP00000433762.1:n.-40+38020_-40+38023del
ENST00000530915.1:c.-127-16114_-127-16111del	ENSP00000431868.1:n.-127-16114_-127-16111del
ENST00000534823.1:n.126+37429_126+37432del
NM_080491.2:c.75+37429_75+37432del	NP_536739.1:n.75+37429_75+37432del
XM_006718753.1:c.-127-16114_-127-16111del	XP_006718816.1:n.-127-16114_-127-16111del
XM_006718753.2:c.-127-16114_-127-16111del	XP_006718816.1:n.-127-16114_-127-16111del
NM_080491.3:c.75+37429_75+37432del MANE Select	NP_536739.1:n.75+37429_75+37432del