Canonical Allele Identifier: CA2014276990

Gene: GNB3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843034_6843063delinsACCTGGCCAAGATTTACGCCATGCACTGGG , CM000674.2:g.6843034_6843063delinsACCTGGCCAAGATTTACGCCATGCACTGGG	GRCh38
NC_000012.11:g.6952198_6952227delinsACCTGGCCAAGATTTACGCCATGCACTGGG , CM000674.1:g.6952198_6952227delinsACCTGGCCAAGATTTACGCCATGCACTGGG	GRCh37
NC_000012.10:g.6822459_6822488delinsACCTGGCCAAGATTTACGCCATGCACTGGG	NCBI36
NG_009100.1:g.7824_7853delinsACCTGGCCAAGATTTACGCCATGCACTGGG
NG_009100.2:g.7824_7853delinsACCTGGCCAAGATTTACGCCATGCACTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG MANE Select	ENSP00000229264.3:p.His54=
ENST00000229264.7:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000229264.3:p.His54=
ENST00000435982.6:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000414734.2:p.His54=
ENST00000537035.1:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000445967.1:p.His54=
ENST00000539127.5:c.*181_*210delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000444325.1:n.*181_*210delinsACCTGGCCAAGATTTACGCCATGCAC...
ENST00000540458.5:n.1512_1541delinsACCTGGCCAAGATTTACGCCATGCACTGGG
ENST00000541257.5:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000442002.1:p.His54=
ENST00000541978.5:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	ENSP00000439753.2:p.His54=
NM_001297571.1:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	NP_001284500.1:p.His54=
NM_002075.3:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	NP_002066.1:p.His54=
XM_011520953.1:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	XP_011519255.1:p.His54=
XM_011520954.1:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	XP_011519256.1:p.His54=
XM_011520953.3:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	XP_011519255.1:p.His54=
NM_001297571.2:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG	NP_001284500.1:p.His54=
NM_002075.4:c.161_190delinsACCTGGCCAAGATTTACGCCATGCACTGGG MANE Select	NP_002066.1:p.His54=