Canonical Allele Identifier: CA914468618
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428797_127428798insTCATTATGGGCTACTCGCGGCAGATCTACTC , CM000664.2:g.127428797_127428798insTCATTATGGGCTACTCGCGGCAGATCTACTC GRCh38
NC_000002.11:g.128186373_128186374insTCATTATGGGCTACTCGCGGCAGATCTACTC , CM000664.1:g.128186373_128186374insTCATTATGGGCTACTCGCGGCAGATCTACTC GRCh37
NC_000002.10:g.127902843_127902844insTCATTATGGGCTACTCGCGGCAGATCTACTC NCBI36
NG_016323.1:g.15378_15379insTCATTATGGGCTACTCGCGGCAGATCTACTC , LRG_599:g.15378_15379insTCATTATGGGCTACTCGCGGCAGATCTACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC MANE Select ENSP00000234071.4:p.Thr413IlefsTer22
ENST00000234071.7:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC ENSP00000234071.3:p.Thr413IlefsTer22
ENST00000402125.2:c.561_562insTCATTATGGGCTACTCGCGGCAGATCTACTC
ENST00000409048.1:c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC ENSP00000386679.1:p.Thr447IlefsTer22
NM_000312.3:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC , LRG_599t1:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_000303.1:p.Thr413IlefsTer22
XM_005263715.3:c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_005263772.1:p.Thr474IlefsTer22
XM_005263716.3:c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_005263773.1:p.Thr468IlefsTer22
XM_005263717.3:c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_005263774.1:p.Thr434IlefsTer22
XR_923313.1:n.1332-534_1332-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
XM_005263717.4:c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_005263774.1:p.Thr434IlefsTer22
XM_017004505.1:c.1480_1481insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_016859994.1:p.Thr494IlefsTer22
XM_024453002.1:c.1582_1583insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_024308770.1:p.Thr528IlefsTer22
XM_024453003.1:c.1522_1523insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_024308771.1:p.Thr508IlefsTer22
XM_024453004.1:c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_024308772.1:p.Thr474IlefsTer22
XM_024453005.1:c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_024308773.1:p.Thr468IlefsTer22
XM_024453006.1:c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC XP_024308774.1:p.Thr447IlefsTer22
XR_001739705.1:n.3607-534_3607-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
XR_923313.2:n.4043-534_4043-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA
NM_000312.4:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC MANE Select NP_000303.1:p.Thr413IlefsTer22
NM_001375602.1:c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362531.1:p.Thr474IlefsTer22
NM_001375603.1:c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362532.1:p.Thr468IlefsTer22
NM_001375604.1:c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362533.1:p.Thr434IlefsTer22
NM_001375605.1:c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362534.1:p.Thr447IlefsTer22
NM_001375606.1:c.1405_1406insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362535.1:p.Thr469IlefsTer22
NM_001375607.1:c.1423_1424insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362536.1:p.Thr475IlefsTer22
NM_001375608.1:c.1180_1181insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362537.1:p.Thr394IlefsTer22
NM_001375609.1:c.1213_1214insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362538.1:p.Thr405IlefsTer22
NM_001375610.1:c.1231_1232insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362539.1:p.Thr411IlefsTer22
NM_001375611.1:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362540.1:p.Thr413IlefsTer22
NM_001375613.1:c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC NP_001362542.1:p.Thr413IlefsTer22