Canonical Allele Identifier: CA1064002322

Gene: GC

Linked Data

• dbSNP Id: rs1742765445
• gnomAD v3: 4-71783963-CT-C
• gnomAD v4: 4-71783963-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71783964del , CM000666.2:g.71783964del	GRCh38
NC_000004.11:g.72649681del , CM000666.1:g.72649681del	GRCh37
NC_000004.10:g.72868545del	NCBI36
NG_012837.2:g.26557del
NG_012837.3:g.26557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.55del MANE Select	ENSP00000273951.8:p.Arg19GlufsTer27
ENST00000273951.12:c.55del	ENSP00000273951.8:p.Arg19GlufsTer27
ENST00000504199.5:c.112del	ENSP00000421725.1:p.Arg38GlufsTer27
ENST00000506245.1:c.55del	ENSP00000426718.1:p.Arg19GlufsTer27
ENST00000509740.5:c.55del	ENSP00000422664.1:p.Arg19GlufsTer27
ENST00000513476.5:c.55del	ENSP00000426683.1:p.Arg19GlufsTer27
NM_000583.3:c.55del	NP_000574.2:p.Arg19GlufsTer27
NM_001204306.1:c.55del	NP_001191235.1:p.Arg19GlufsTer27
NM_001204307.1:c.112del	NP_001191236.1:p.Arg38GlufsTer27
XM_006714177.2:c.55del	XP_006714240.1:p.Arg19GlufsTer27
XM_006714177.3:c.55del	XP_006714240.1:p.Arg19GlufsTer27
NM_000583.4:c.55del MANE Select	NP_000574.2:p.Arg19GlufsTer27