Canonical Allele Identifier: CA917223490

Gene: GC

Linked Data

• dbSNP Id: rs1578288605

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756913del , CM000666.2:g.71756913del	GRCh38
NC_000004.11:g.72622630del , CM000666.1:g.72622630del	GRCh37
NC_000004.10:g.72841494del	NCBI36
NG_012837.2:g.53608del
NG_012837.3:g.53608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.833del MANE Select	ENSP00000273951.8:p.Leu278ArgfsTer6
ENST00000273951.12:c.833del	ENSP00000273951.8:p.Leu278ArgfsTer6
ENST00000503472.5:n.717del
ENST00000504199.5:c.890del	ENSP00000421725.1:p.Leu297ArgfsTer6
ENST00000509740.5:c.833del	ENSP00000422664.1:p.Leu278ArgfsTer6
ENST00000513476.5:c.833del	ENSP00000426683.1:p.Leu278ArgfsTer6
NM_000583.3:c.833del	NP_000574.2:p.Leu278ArgfsTer6
NM_001204306.1:c.833del	NP_001191235.1:p.Leu278ArgfsTer6
NM_001204307.1:c.890del	NP_001191236.1:p.Leu297ArgfsTer6
XM_006714177.2:c.833del	XP_006714240.1:p.Leu278ArgfsTer6
XM_006714177.3:c.833del	XP_006714240.1:p.Leu278ArgfsTer6
NM_000583.4:c.833del MANE Select	NP_000574.2:p.Leu278ArgfsTer6