Canonical Allele Identifier: CA2503778277

Gene: GNB3

Linked Data

• gnomAD v4: 12-6843074-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843076del , CM000674.2:g.6843076del	GRCh38
NC_000012.11:g.6952240del , CM000674.1:g.6952240del	GRCh37
NC_000012.10:g.6822501del	NCBI36
NG_009100.1:g.7866del
NG_009100.2:g.7866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.203del MANE Select	ENSP00000229264.3:p.Lys68SerfsTer4
ENST00000229264.7:c.203del	ENSP00000229264.3:p.Lys68SerfsTer4
ENST00000435982.6:c.203del	ENSP00000414734.2:p.Lys68SerfsTer4
ENST00000537035.1:c.203del	ENSP00000445967.1:p.Lys68SerfsTer4
ENST00000539127.5:c.*223del	ENSP00000444325.1:n.*223del
ENST00000540458.5:n.1554del
ENST00000541257.5:c.203del	ENSP00000442002.1:p.Lys68SerfsTer4
ENST00000541978.5:c.203del	ENSP00000439753.2:p.Lys68SerfsTer4
NM_001297571.1:c.203del	NP_001284500.1:p.Lys68SerfsTer4
NM_002075.3:c.203del	NP_002066.1:p.Lys68SerfsTer4
XM_011520953.1:c.203del	XP_011519255.1:p.Lys68SerfsTer4
XM_011520954.1:c.203del	XP_011519256.1:p.Lys68SerfsTer4
XM_011520953.3:c.203del	XP_011519255.1:p.Lys68SerfsTer4
NM_001297571.2:c.203del	NP_001284500.1:p.Lys68SerfsTer4
NM_002075.4:c.203del MANE Select	NP_002066.1:p.Lys68SerfsTer4