Canonical Allele Identifier: CA1467352533

Gene: GC

Linked Data

• dbSNP Id: rs1741451407
• gnomAD v3: 4-71748590-AAAG-A
• gnomAD v4: 4-71748590-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71748595_71748597del , CM000666.2:g.71748595_71748597del	GRCh38
NC_000004.11:g.72614312_72614314del , CM000666.1:g.72614312_72614314del	GRCh37
NC_000004.10:g.72833176_72833178del	NCBI36
NG_012837.2:g.61928_61930del
NG_012837.3:g.61928_61930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1396-2388_1396-2386del MANE Select	ENSP00000273951.8:n.1396-2388_1396-2386de...
ENST00000273951.12:c.1396-2388_1396-2386del	ENSP00000273951.8:n.1396-2388_1396-2386de...
ENST00000503364.5:n.69-2388_69-2386del
ENST00000503472.5:n.1280-2388_1280-2386del
ENST00000504199.5:c.1453-2388_1453-2386del	ENSP00000421725.1:n.1453-2388_1453-2386de...
ENST00000509740.5:c.*219-2388_*219-2386del	ENSP00000422664.1:n.*219-2388_*219-2386de...
ENST00000513476.5:c.1395+3925_1395+3927del	ENSP00000426683.1:n.1395+3925_1395+3927de...
NM_000583.3:c.1396-2388_1396-2386del	NP_000574.2:n.1396-2388_1396-2386del
NM_001204306.1:c.1396-2388_1396-2386del	NP_001191235.1:n.1396-2388_1396-2386del
NM_001204307.1:c.1453-2388_1453-2386del	NP_001191236.1:n.1453-2388_1453-2386del
XM_006714177.2:c.1263-2388_1263-2386del	XP_006714240.1:n.1263-2388_1263-2386del
XM_006714177.3:c.1263-2388_1263-2386del	XP_006714240.1:n.1263-2388_1263-2386del
NM_000583.4:c.1396-2388_1396-2386del MANE Select	NP_000574.2:n.1396-2388_1396-2386del