Canonical Allele Identifier: CA99059378

Gene: GC

Linked Data

• dbSNP Id: rs948918828
• gnomAD v3: 4-71745574-GAA-G
• gnomAD v4: 4-71745574-GAA-G
• MyVariant Identifiers: chr4:g.72611292_72611293del (hg19) ; chr4:g.71745575_71745576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745577_71745578del , CM000666.2:g.71745577_71745578del	GRCh38
NC_000004.11:g.72611294_72611295del , CM000666.1:g.72611294_72611295del	GRCh37
NC_000004.10:g.72830158_72830159del	NCBI36
NG_012837.2:g.64945_64946del
NG_012837.3:g.64945_64946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*25+575_*25+576del MANE Select	ENSP00000273951.8:n.*25+575_*25+576del
ENST00000273951.12:c.*25+575_*25+576del	ENSP00000273951.8:n.*25+575_*25+576del
ENST00000503364.5:n.123+575_123+576del
ENST00000503472.5:n.1334+575_1334+576del
ENST00000504199.5:c.*25+575_*25+576del	ENSP00000421725.1:n.*25+575_*25+576del
ENST00000509740.5:c.*273+575_*273+576del	ENSP00000422664.1:n.*273+575_*273+576del
ENST00000513476.5:c.1396-3706_1396-3705del	ENSP00000426683.1:n.1396-3706_1396-3705del
NM_000583.3:c.*25+575_*25+576del	NP_000574.2:n.*25+575_*25+576del
NM_001204306.1:c.*25+575_*25+576del	NP_001191235.1:n.*25+575_*25+576del
NM_001204307.1:c.*25+575_*25+576del	NP_001191236.1:n.*25+575_*25+576del
XM_006714177.2:c.*39+575_*39+576del	XP_006714240.1:n.*39+575_*39+576del
XM_006714177.3:c.*39+575_*39+576del	XP_006714240.1:n.*39+575_*39+576del
NM_000583.4:c.*25+575_*25+576del MANE Select	NP_000574.2:n.*25+575_*25+576del