Canonical Allele Identifier: CA1467353516
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741535316

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71750932_71750937del , CM000666.2:g.71750932_71750937del GRCh38
NC_000004.11:g.72616649_72616654del , CM000666.1:g.72616649_72616654del GRCh37
NC_000004.10:g.72835513_72835518del NCBI36
NG_012837.2:g.59592_59597del
NG_012837.3:g.59592_59597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.1395+1589_1395+1594del MANE Select ENSP00000273951.8:n.1395+1589_1395+1594del
ENST00000273951.12:c.1395+1589_1395+1594del ENSP00000273951.8:n.1395+1589_1395+1594del
ENST00000503364.5:n.68+3482_68+3487del
ENST00000503472.5:n.1279+1589_1279+1594del
ENST00000504199.5:c.1452+1589_1452+1594del ENSP00000421725.1:n.1452+1589_1452+1594del
ENST00000509740.5:c.*218+1589_*218+1594del ENSP00000422664.1:n.*218+1589_*218+1594del
ENST00000513476.5:c.1395+1589_1395+1594del ENSP00000426683.1:n.1395+1589_1395+1594del
NM_000583.3:c.1395+1589_1395+1594del NP_000574.2:n.1395+1589_1395+1594del
NM_001204306.1:c.1395+1589_1395+1594del NP_001191235.1:n.1395+1589_1395+1594del
NM_001204307.1:c.1452+1589_1452+1594del NP_001191236.1:n.1452+1589_1452+1594del
XM_006714177.2:c.1262+3482_1262+3487del XP_006714240.1:n.1262+3482_1262+3487del
XM_006714177.3:c.1262+3482_1262+3487del XP_006714240.1:n.1262+3482_1262+3487del
NM_000583.4:c.1395+1589_1395+1594del MANE Select NP_000574.2:n.1395+1589_1395+1594del