Canonical Allele Identifier: CA99059403

Gene: GC

Linked Data

• dbSNP Id: rs35643766
• gnomAD v2: 4-72611369-CTA-C
• gnomAD v3: 4-71745652-CTA-C
• gnomAD v4: 4-71745652-CTA-C
• MyVariant Identifiers: chr4:g.72611370_72611371del (hg19) ; chr4:g.71745653_71745654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745654_71745655del , CM000666.2:g.71745654_71745655del	GRCh38
NC_000004.11:g.72611371_72611372del , CM000666.1:g.72611371_72611372del	GRCh37
NC_000004.10:g.72830235_72830236del	NCBI36
NG_012837.2:g.64867_64868del
NG_012837.3:g.64867_64868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*25+497_*25+498del MANE Select	ENSP00000273951.8:n.*25+497_*25+498del
ENST00000273951.12:c.*25+497_*25+498del	ENSP00000273951.8:n.*25+497_*25+498del
ENST00000503364.5:n.123+497_123+498del
ENST00000503472.5:n.1334+497_1334+498del
ENST00000504199.5:c.*25+497_*25+498del	ENSP00000421725.1:n.*25+497_*25+498del
ENST00000509740.5:c.*273+497_*273+498del	ENSP00000422664.1:n.*273+497_*273+498del
ENST00000513476.5:c.1396-3784_1396-3783del	ENSP00000426683.1:n.1396-3784_1396-3783del
NM_000583.3:c.*25+497_*25+498del	NP_000574.2:n.*25+497_*25+498del
NM_001204306.1:c.*25+497_*25+498del	NP_001191235.1:n.*25+497_*25+498del
NM_001204307.1:c.*25+497_*25+498del	NP_001191236.1:n.*25+497_*25+498del
XM_006714177.2:c.*39+497_*39+498del	XP_006714240.1:n.*39+497_*39+498del
XM_006714177.3:c.*39+497_*39+498del	XP_006714240.1:n.*39+497_*39+498del
NM_000583.4:c.*25+497_*25+498del MANE Select	NP_000574.2:n.*25+497_*25+498del