Canonical Allele Identifier: CA2586969922
Gene: PROC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428771_127428772del , CM000664.2:g.127428771_127428772del GRCh38
NC_000002.11:g.128186347_128186348del , CM000664.1:g.128186347_128186348del GRCh37
NC_000002.10:g.127902817_127902818del NCBI36
NG_016323.1:g.15352_15353del , LRG_599:g.15352_15353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1211_1212del MANE Select ENSP00000234071.4:p.Gly404AlafsTer20
ENST00000234071.7:c.1211_1212del ENSP00000234071.3:p.Gly404AlafsTer20
ENST00000402125.2:c.535_536del
ENST00000409048.1:c.1313_1314del ENSP00000386679.1:p.Gly438AlafsTer20
NM_000312.3:c.1211_1212del , LRG_599t1:c.1211_1212del NP_000303.1:p.Gly404AlafsTer20
XM_005263715.3:c.1394_1395del XP_005263772.1:p.Gly465AlafsTer20
XM_005263716.3:c.1376_1377del XP_005263773.1:p.Gly459AlafsTer20
XM_005263717.3:c.1274_1275del XP_005263774.1:p.Gly425AlafsTer20
XR_923313.1:n.1332-504_1332-503del
XM_005263717.4:c.1274_1275del XP_005263774.1:p.Gly425AlafsTer20
XM_017004505.1:c.1454_1455del XP_016859994.1:p.Gly485AlafsTer20
XM_024453002.1:c.1556_1557del XP_024308770.1:p.Gly519AlafsTer20
XM_024453003.1:c.1496_1497del XP_024308771.1:p.Gly499AlafsTer20
XM_024453004.1:c.1394_1395del XP_024308772.1:p.Gly465AlafsTer20
XM_024453005.1:c.1376_1377del XP_024308773.1:p.Gly459AlafsTer20
XM_024453006.1:c.1313_1314del XP_024308774.1:p.Gly438AlafsTer20
XR_001739705.1:n.3607-504_3607-503del
XR_923313.2:n.4043-504_4043-503del
NM_000312.4:c.1211_1212del MANE Select NP_000303.1:p.Gly404AlafsTer20
NM_001375602.1:c.1394_1395del NP_001362531.1:p.Gly465AlafsTer20
NM_001375603.1:c.1376_1377del NP_001362532.1:p.Gly459AlafsTer20
NM_001375604.1:c.1274_1275del NP_001362533.1:p.Gly425AlafsTer20
NM_001375605.1:c.1313_1314del NP_001362534.1:p.Gly438AlafsTer20
NM_001375606.1:c.1379_1380del NP_001362535.1:p.Gly460AlafsTer20
NM_001375607.1:c.1397_1398del NP_001362536.1:p.Gly466AlafsTer20
NM_001375608.1:c.1154_1155del NP_001362537.1:p.Gly385AlafsTer20
NM_001375609.1:c.1187_1188del NP_001362538.1:p.Gly396AlafsTer20
NM_001375610.1:c.1205_1206del NP_001362539.1:p.Gly402AlafsTer20
NM_001375611.1:c.1211_1212del NP_001362540.1:p.Gly404AlafsTer20
NM_001375613.1:c.1211_1212del NP_001362542.1:p.Gly404AlafsTer20