Canonical Allele Identifier: CA2599655023

Gene: GAB2

Linked Data

• gnomAD v3: 11-78380213-C-CTCT
• gnomAD v4: 11-78380213-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380214_78380215insCTT , CM000673.2:g.78380214_78380215insCTT	GRCh38
NC_000011.9:g.78091260_78091261insCTT , CM000673.1:g.78091260_78091261insCTT	GRCh37
NC_000011.8:g.77768908_77768909insCTT	NCBI36
NG_016171.1:g.42609_42610insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37432_75+37433insAGA MANE Select	ENSP00000354952.4:n.75+37432_75+37433insAGA
ENST00000361507.4:c.75+37432_75+37433insAGA	ENSP00000354952.4:n.75+37432_75+37433insAGA
ENST00000526030.1:n.177+37432_177+37433insAGA
ENST00000528886.5:c.-40+38023_-40+38024insAGA	ENSP00000433762.1:n.-40+38023_-40+38024insAGA
ENST00000530915.1:c.-127-16111_-127-16110insAGA	ENSP00000431868.1:n.-127-16111_-127-16110insAGA
ENST00000534823.1:n.126+37432_126+37433insAGA
NM_080491.2:c.75+37432_75+37433insAGA	NP_536739.1:n.75+37432_75+37433insAGA
XM_006718753.1:c.-127-16111_-127-16110insAGA	XP_006718816.1:n.-127-16111_-127-16110insAGA
XM_006718753.2:c.-127-16111_-127-16110insAGA	XP_006718816.1:n.-127-16111_-127-16110insAGA
NM_080491.3:c.75+37432_75+37433insAGA MANE Select	NP_536739.1:n.75+37432_75+37433insAGA