Canonical Allele Identifier: CA552288895

Gene: GC

Linked Data

• dbSNP Id: rs1322692682
• gnomAD v2: 4-72607544-TTAGGTCATCAGAGATCATTCCCC-T
• gnomAD v4: 4-71741827-TTAGGTCATCAGAGATCATTCCCC-T
• MyVariant Identifiers: chr4:g.72607545_72607567del (hg19) ; chr4:g.71741828_71741850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71741829_71741851del , CM000666.2:g.71741829_71741851del	GRCh38
NC_000004.11:g.72607546_72607568del , CM000666.1:g.72607546_72607568del	GRCh37
NC_000004.10:g.72826410_72826432del	NCBI36
NG_012837.2:g.68671_68693del
NG_012837.3:g.68671_68693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*46_*68del MANE Select	ENSP00000273951.8:n.*46_*68del
ENST00000273951.12:c.*46_*68del	ENSP00000273951.8:n.*46_*68del
ENST00000503364.5:n.144_166del
ENST00000503472.5:n.1355_1377del
ENST00000504199.5:c.*46_*68del	ENSP00000421725.1:n.*46_*68del
ENST00000509740.5:c.*294_*316del	ENSP00000422664.1:n.*294_*316del
ENST00000513476.5:c.1416_*7del	ENSP00000426683.1:n.[c.1416_*7del;Gly473ProfsTer6]
NM_000583.3:c.*46_*68del	NP_000574.2:n.*46_*68del
NM_001204306.1:c.*46_*68del	NP_001191235.1:n.*46_*68del
NM_001204307.1:c.*46_*68del	NP_001191236.1:n.*46_*68del
XM_006714177.2:c.*60_*82del	XP_006714240.1:n.*60_*82del
XM_006714177.3:c.*60_*82del	XP_006714240.1:n.*60_*82del
NM_000583.4:c.*46_*68del MANE Select	NP_000574.2:n.*46_*68del