Canonical Allele Identifier: CA1286884622
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs1688696349

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428742_127428743del , CM000664.2:g.127428742_127428743del GRCh38
NC_000002.11:g.128186318_128186319del , CM000664.1:g.128186318_128186319del GRCh37
NC_000002.10:g.127902788_127902789del NCBI36
NG_016323.1:g.15323_15324del , LRG_599:g.15323_15324del

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1182_1183del MANE Select ENSP00000234071.4:p.Gln395GlyfsTer29
ENST00000234071.7:c.1182_1183del ENSP00000234071.3:p.Gln395GlyfsTer29
ENST00000402125.2:c.506_507del
ENST00000409048.1:c.1284_1285del ENSP00000386679.1:p.Gln429GlyfsTer29
NM_000312.3:c.1182_1183del , LRG_599t1:c.1182_1183del NP_000303.1:p.Gln395GlyfsTer29
XM_005263715.3:c.1365_1366del XP_005263772.1:p.Gln456GlyfsTer29
XM_005263716.3:c.1347_1348del XP_005263773.1:p.Gln450GlyfsTer29
XM_005263717.3:c.1245_1246del XP_005263774.1:p.Gln416GlyfsTer29
XR_923313.1:n.1332-479_1332-478del
XM_005263717.4:c.1245_1246del XP_005263774.1:p.Gln416GlyfsTer29
XM_017004505.1:c.1425_1426del XP_016859994.1:p.Gln476GlyfsTer29
XM_024453002.1:c.1527_1528del XP_024308770.1:p.Gln510GlyfsTer29
XM_024453003.1:c.1467_1468del XP_024308771.1:p.Gln490GlyfsTer29
XM_024453004.1:c.1365_1366del XP_024308772.1:p.Gln456GlyfsTer29
XM_024453005.1:c.1347_1348del XP_024308773.1:p.Gln450GlyfsTer29
XM_024453006.1:c.1284_1285del XP_024308774.1:p.Gln429GlyfsTer29
XR_001739705.1:n.3607-479_3607-478del
XR_923313.2:n.4043-479_4043-478del
NM_000312.4:c.1182_1183del MANE Select NP_000303.1:p.Gln395GlyfsTer29
NM_001375602.1:c.1365_1366del NP_001362531.1:p.Gln456GlyfsTer29
NM_001375603.1:c.1347_1348del NP_001362532.1:p.Gln450GlyfsTer29
NM_001375604.1:c.1245_1246del NP_001362533.1:p.Gln416GlyfsTer29
NM_001375605.1:c.1284_1285del NP_001362534.1:p.Gln429GlyfsTer29
NM_001375606.1:c.1350_1351del NP_001362535.1:p.Gln451GlyfsTer29
NM_001375607.1:c.1368_1369del NP_001362536.1:p.Gln457GlyfsTer29
NM_001375608.1:c.1125_1126del NP_001362537.1:p.Gln376GlyfsTer29
NM_001375609.1:c.1158_1159del NP_001362538.1:p.Gln387GlyfsTer29
NM_001375610.1:c.1176_1177del NP_001362539.1:p.Gln393GlyfsTer29
NM_001375611.1:c.1182_1183del NP_001362540.1:p.Gln395GlyfsTer29
NM_001375613.1:c.1182_1183del NP_001362542.1:p.Gln395GlyfsTer29