Canonical Allele Identifier: CA680553995

Gene: GAB2

Linked Data

• dbSNP Id: rs1258489378
• gnomAD v3: 11-78380217-T-TG
• gnomAD v4: 11-78380217-T-TG
• MyVariant Identifiers: chr11:g.78091263_78091264insG (hg19) ; chr11:g.78380217_78380218insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380217_78380218insG , CM000673.2:g.78380217_78380218insG	GRCh38
NC_000011.9:g.78091263_78091264insG , CM000673.1:g.78091263_78091264insG	GRCh37
NC_000011.8:g.77768911_77768912insG	NCBI36
NG_016171.1:g.42605_42606insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37428_75+37429insC MANE Select	ENSP00000354952.4:n.75+37428_75+37429insC
ENST00000361507.4:c.75+37428_75+37429insC	ENSP00000354952.4:n.75+37428_75+37429insC
ENST00000526030.1:n.177+37428_177+37429insC
ENST00000528886.5:c.-40+38019_-40+38020insC	ENSP00000433762.1:n.-40+38019_-40+38020insC
ENST00000530915.1:c.-127-16115_-127-16114insC	ENSP00000431868.1:n.-127-16115_-127-16114insC
ENST00000534823.1:n.126+37428_126+37429insC
NM_080491.2:c.75+37428_75+37429insC	NP_536739.1:n.75+37428_75+37429insC
XM_006718753.1:c.-127-16115_-127-16114insC	XP_006718816.1:n.-127-16115_-127-16114insC
XM_006718753.2:c.-127-16115_-127-16114insC	XP_006718816.1:n.-127-16115_-127-16114insC
NM_080491.3:c.75+37428_75+37429insC MANE Select	NP_536739.1:n.75+37428_75+37429insC