Canonical Allele Identifier: CA917223489

Gene: GC

Linked Data

• dbSNP Id: rs1560693929
• gnomAD v4: 4-71756749-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756755_71756758del , CM000666.2:g.71756755_71756758del	GRCh38
NC_000004.11:g.72622472_72622475del , CM000666.1:g.72622472_72622475del	GRCh37
NC_000004.10:g.72841336_72841339del	NCBI36
NG_012837.2:g.53768_53771del
NG_012837.3:g.53768_53771del

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.993_996del MANE Select	ENSP00000273951.8:p.Asn331LysfsTer19
ENST00000273951.12:c.993_996del	ENSP00000273951.8:p.Asn331LysfsTer19
ENST00000503472.5:n.877_880del
ENST00000504199.5:c.1050_1053del	ENSP00000421725.1:p.Asn350LysfsTer19
ENST00000509740.5:c.993_996del	ENSP00000422664.1:p.Asn331LysfsTer26
ENST00000513476.5:c.993_996del	ENSP00000426683.1:p.Asn331LysfsTer19
NM_000583.3:c.993_996del	NP_000574.2:p.Asn331LysfsTer19
NM_001204306.1:c.993_996del	NP_001191235.1:p.Asn331LysfsTer19
NM_001204307.1:c.1050_1053del	NP_001191236.1:p.Asn350LysfsTer19
XM_006714177.2:c.993_996del	XP_006714240.1:p.Asn331LysfsTer19
XM_006714177.3:c.993_996del	XP_006714240.1:p.Asn331LysfsTer19
NM_000583.4:c.993_996del MANE Select	NP_000574.2:p.Asn331LysfsTer19