Canonical Allele Identifier: CA1467373254

Gene: GC

Linked Data

• dbSNP Id: rs1724916636
• gnomAD v4: 4-71756889-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756892_71756893del , CM000666.2:g.71756892_71756893del	GRCh38
NC_000004.11:g.72622609_72622610del , CM000666.1:g.72622609_72622610del	GRCh37
NC_000004.10:g.72841473_72841474del	NCBI36
NG_012837.2:g.53630_53631del
NG_012837.3:g.53630_53631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.855_856del MANE Select	ENSP00000273951.8:p.Cys286Ter
ENST00000273951.12:c.855_856del	ENSP00000273951.8:p.Cys286Ter
ENST00000503472.5:n.739_740del
ENST00000504199.5:c.912_913del	ENSP00000421725.1:p.Cys305Ter
ENST00000509740.5:c.855_856del	ENSP00000422664.1:p.Cys286Ter
ENST00000513476.5:c.855_856del	ENSP00000426683.1:p.Cys286Ter
NM_000583.3:c.855_856del	NP_000574.2:p.Cys286Ter
NM_001204306.1:c.855_856del	NP_001191235.1:p.Cys286Ter
NM_001204307.1:c.912_913del	NP_001191236.1:p.Cys305Ter
XM_006714177.2:c.855_856del	XP_006714240.1:p.Cys286Ter
XM_006714177.3:c.855_856del	XP_006714240.1:p.Cys286Ter
NM_000583.4:c.855_856del MANE Select	NP_000574.2:p.Cys286Ter