Canonical Allele Identifier: CA1286884618
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs1688695736

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428739_127428740insA , CM000664.2:g.127428739_127428740insA GRCh38
NC_000002.11:g.128186315_128186316insA , CM000664.1:g.128186315_128186316insA GRCh37
NC_000002.10:g.127902785_127902786insA NCBI36
NG_016323.1:g.15320_15321insA , LRG_599:g.15320_15321insA

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1179_1180insA MANE Select ENSP00000234071.4:p.Arg394ThrfsTer?
ENST00000234071.7:c.1179_1180insA ENSP00000234071.3:p.Arg394ThrfsTer?
ENST00000402125.2:c.503_504insA
ENST00000409048.1:c.1281_1282insA ENSP00000386679.1:p.Arg428ThrfsTer?
NM_000312.3:c.1179_1180insA , LRG_599t1:c.1179_1180insA NP_000303.1:p.Arg394ThrfsTer?
XM_005263715.3:c.1362_1363insA XP_005263772.1:p.Arg455ThrfsTer?
XM_005263716.3:c.1344_1345insA XP_005263773.1:p.Arg449ThrfsTer?
XM_005263717.3:c.1242_1243insA XP_005263774.1:p.Arg415ThrfsTer?
XR_923313.1:n.1332-476_1332-475insT
XM_005263717.4:c.1242_1243insA XP_005263774.1:p.Arg415ThrfsTer?
XM_017004505.1:c.1422_1423insA XP_016859994.1:p.Arg475ThrfsTer?
XM_024453002.1:c.1524_1525insA XP_024308770.1:p.Arg509ThrfsTer?
XM_024453003.1:c.1464_1465insA XP_024308771.1:p.Arg489ThrfsTer?
XM_024453004.1:c.1362_1363insA XP_024308772.1:p.Arg455ThrfsTer?
XM_024453005.1:c.1344_1345insA XP_024308773.1:p.Arg449ThrfsTer?
XM_024453006.1:c.1281_1282insA XP_024308774.1:p.Arg428ThrfsTer?
XR_001739705.1:n.3607-476_3607-475insT
XR_923313.2:n.4043-476_4043-475insT
NM_000312.4:c.1179_1180insA MANE Select NP_000303.1:p.Arg394ThrfsTer?
NM_001375602.1:c.1362_1363insA NP_001362531.1:p.Arg455ThrfsTer?
NM_001375603.1:c.1344_1345insA NP_001362532.1:p.Arg449ThrfsTer?
NM_001375604.1:c.1242_1243insA NP_001362533.1:p.Arg415ThrfsTer?
NM_001375605.1:c.1281_1282insA NP_001362534.1:p.Arg428ThrfsTer?
NM_001375606.1:c.1347_1348insA NP_001362535.1:p.Arg450ThrfsTer?
NM_001375607.1:c.1365_1366insA NP_001362536.1:p.Arg456ThrfsTer?
NM_001375608.1:c.1122_1123insA NP_001362537.1:p.Arg375ThrfsTer?
NM_001375609.1:c.1155_1156insA NP_001362538.1:p.Arg386ThrfsTer?
NM_001375610.1:c.1173_1174insA NP_001362539.1:p.Arg392ThrfsTer?
NM_001375611.1:c.1179_1180insA NP_001362540.1:p.Arg394ThrfsTer?
NM_001375613.1:c.1179_1180insA NP_001362542.1:p.Arg394ThrfsTer?