Canonical Allele Identifier: CA680545627

Gene: GAB2

Linked Data

• dbSNP Id: rs1271255465
• gnomAD v3: 11-78342121-A-AT
• gnomAD v4: 11-78342121-A-AT
• MyVariant Identifiers: chr11:g.78053167_78053168insT (hg19) ; chr11:g.78342121_78342122insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78342122dup , CM000673.2:g.78342122dup	GRCh38
NC_000011.9:g.78053168dup , CM000673.1:g.78053168dup	GRCh37
NC_000011.8:g.77730816dup	NCBI36
NG_016171.1:g.80701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.76-61221dup MANE Select	ENSP00000354952.4:n.76-61221dup
ENST00000361507.4:c.76-61221dup	ENSP00000354952.4:n.76-61221dup
ENST00000526030.1:n.178-23903dup
ENST00000528886.5:c.-39-61221dup	ENSP00000433762.1:n.-39-61221dup
ENST00000530915.1:c.-40+21894dup	ENSP00000431868.1:n.-40+21894dup
ENST00000534823.1:n.127-61221dup
NM_080491.2:c.76-61221dup	NP_536739.1:n.76-61221dup
XM_006718753.1:c.-40+21894dup	XP_006718816.1:n.-40+21894dup
XM_006718753.2:c.-40+21894dup	XP_006718816.1:n.-40+21894dup
XM_024448782.1:c.21+12612dup	XP_024304550.1:n.21+12612dup
NM_080491.3:c.76-61221dup MANE Select	NP_536739.1:n.76-61221dup