Canonical Allele Identifier: CA2617346639

Gene: GNB3

Linked Data

• gnomAD v4: 12-6843085-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843091_6843092del , CM000674.2:g.6843091_6843092del	GRCh38
NC_000012.11:g.6952255_6952256del , CM000674.1:g.6952255_6952256del	GRCh37
NC_000012.10:g.6822516_6822517del	NCBI36
NG_009100.1:g.7881_7882del
NG_009100.2:g.7881_7882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.203+15_203+16del MANE Select	ENSP00000229264.3:n.203+15_203+16del
ENST00000229264.7:c.203+15_203+16del	ENSP00000229264.3:n.203+15_203+16del
ENST00000435982.6:c.203+15_203+16del	ENSP00000414734.2:n.203+15_203+16del
ENST00000537035.1:c.203+15_203+16del	ENSP00000445967.1:n.203+15_203+16del
ENST00000539127.5:c.*223+15_*223+16del	ENSP00000444325.1:n.*223+15_*223+16del
ENST00000540458.5:n.1554+15_1554+16del
ENST00000541257.5:c.203+15_203+16del	ENSP00000442002.1:n.203+15_203+16del
ENST00000541978.5:c.203+15_203+16del	ENSP00000439753.2:n.203+15_203+16del
NM_001297571.1:c.203+15_203+16del	NP_001284500.1:n.203+15_203+16del
NM_002075.3:c.203+15_203+16del	NP_002066.1:n.203+15_203+16del
XM_011520953.1:c.203+15_203+16del	XP_011519255.1:n.203+15_203+16del
XM_011520954.1:c.203+15_203+16del	XP_011519256.1:n.203+15_203+16del
XM_011520953.3:c.203+15_203+16del	XP_011519255.1:n.203+15_203+16del
NM_001297571.2:c.203+15_203+16del	NP_001284500.1:n.203+15_203+16del
NM_002075.4:c.203+15_203+16del MANE Select	NP_002066.1:n.203+15_203+16del