Canonical Allele Identifier: CA2561821230
Gene: GC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756783_71756786del , CM000666.2:g.71756783_71756786del GRCh38
NC_000004.11:g.72622500_72622503del , CM000666.1:g.72622500_72622503del GRCh37
NC_000004.10:g.72841364_72841367del NCBI36
NG_012837.2:g.53735_53738del
NG_012837.3:g.53735_53738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.960_963del MANE Select ENSP00000273951.8:p.Pro321SerfsTer5
ENST00000273951.12:c.960_963del ENSP00000273951.8:p.Pro321SerfsTer5
ENST00000503472.5:n.844_847del
ENST00000504199.5:c.1017_1020del ENSP00000421725.1:p.Pro340SerfsTer5
ENST00000509740.5:c.960_963del ENSP00000422664.1:p.Pro321SerfsTer5
ENST00000513476.5:c.960_963del ENSP00000426683.1:p.Pro321SerfsTer5
NM_000583.3:c.960_963del NP_000574.2:p.Pro321SerfsTer5
NM_001204306.1:c.960_963del NP_001191235.1:p.Pro321SerfsTer5
NM_001204307.1:c.1017_1020del NP_001191236.1:p.Pro340SerfsTer5
XM_006714177.2:c.960_963del XP_006714240.1:p.Pro321SerfsTer5
XM_006714177.3:c.960_963del XP_006714240.1:p.Pro321SerfsTer5
NM_000583.4:c.960_963del MANE Select NP_000574.2:p.Pro321SerfsTer5