Canonical Allele Identifier: CA2670943555

Gene: GC

Linked Data

• gnomAD v4: 4-71783960-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71783967_71783968del , CM000666.2:g.71783967_71783968del	GRCh38
NC_000004.11:g.72649684_72649685del , CM000666.1:g.72649684_72649685del	GRCh37
NC_000004.10:g.72868548_72868549del	NCBI36
NG_012837.2:g.26559_26560del
NG_012837.3:g.26559_26560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.57_58del MANE Select	ENSP00000273951.8:p.Gly20ProfsTer4
ENST00000273951.12:c.57_58del	ENSP00000273951.8:p.Gly20ProfsTer4
ENST00000504199.5:c.114_115del	ENSP00000421725.1:p.Gly39ProfsTer4
ENST00000506245.1:c.57_58del	ENSP00000426718.1:p.Gly20ProfsTer4
ENST00000509740.5:c.57_58del	ENSP00000422664.1:p.Gly20ProfsTer4
ENST00000513476.5:c.57_58del	ENSP00000426683.1:p.Gly20ProfsTer4
NM_000583.3:c.57_58del	NP_000574.2:p.Gly20ProfsTer4
NM_001204306.1:c.57_58del	NP_001191235.1:p.Gly20ProfsTer4
NM_001204307.1:c.114_115del	NP_001191236.1:p.Gly39ProfsTer4
XM_006714177.2:c.57_58del	XP_006714240.1:p.Gly20ProfsTer4
XM_006714177.3:c.57_58del	XP_006714240.1:p.Gly20ProfsTer4
NM_000583.4:c.57_58del MANE Select	NP_000574.2:p.Gly20ProfsTer4