Canonical Allele Identifier: CA915944097
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 626994
ClinVar RCV Id: RCV000851689
dbSNP Id: rs1573461951

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428928del , CM000664.2:g.127428928del GRCh38
NC_000002.11:g.128186504del , CM000664.1:g.128186504del GRCh37
NC_000002.10:g.127902974del NCBI36
NG_016323.1:g.15509del , LRG_599:g.15509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1368del MANE Select ENSP00000234071.4:p.Lys457ArgfsTer?
ENST00000234071.7:c.1368del ENSP00000234071.3:p.Lys457ArgfsTer?
ENST00000402125.2:c.692del
ENST00000409048.1:c.1470del ENSP00000386679.1:p.Lys491ArgfsTer?
NM_000312.3:c.1368del , LRG_599t1:c.1368del NP_000303.1:p.Lys457ArgfsTer?
XM_005263715.3:c.1551del XP_005263772.1:p.Lys518ArgfsTer?
XM_005263716.3:c.1533del XP_005263773.1:p.Lys512ArgfsTer?
XM_005263717.3:c.1431del XP_005263774.1:p.Lys478ArgfsTer?
XR_923313.1:n.1332-664del
XM_005263717.4:c.1431del XP_005263774.1:p.Lys478ArgfsTer?
XM_017004505.1:c.1611del XP_016859994.1:p.Lys538ArgfsTer?
XM_024453002.1:c.1713del XP_024308770.1:p.Lys572ArgfsTer?
XM_024453003.1:c.1653del XP_024308771.1:p.Lys552ArgfsTer?
XM_024453004.1:c.1551del XP_024308772.1:p.Lys518ArgfsTer?
XM_024453005.1:c.1533del XP_024308773.1:p.Lys512ArgfsTer?
XM_024453006.1:c.1470del XP_024308774.1:p.Lys491ArgfsTer?
XR_001739705.1:n.3607-664del
XR_923313.2:n.4043-664del
NM_000312.4:c.1368del MANE Select NP_000303.1:p.Lys457ArgfsTer?
NM_001375602.1:c.1551del NP_001362531.1:p.Lys518ArgfsTer?
NM_001375603.1:c.1533del NP_001362532.1:p.Lys512ArgfsTer?
NM_001375604.1:c.1431del NP_001362533.1:p.Lys478ArgfsTer?
NM_001375605.1:c.1470del NP_001362534.1:p.Lys491ArgfsTer?
NM_001375606.1:c.1536del NP_001362535.1:p.Lys513ArgfsTer?
NM_001375607.1:c.1554del NP_001362536.1:p.Lys519ArgfsTer?
NM_001375608.1:c.1311del NP_001362537.1:p.Lys438ArgfsTer?
NM_001375609.1:c.1344del NP_001362538.1:p.Lys449ArgfsTer?
NM_001375610.1:c.1362del NP_001362539.1:p.Lys455ArgfsTer?
NM_001375611.1:c.1368del NP_001362540.1:p.Lys457ArgfsTer?
NM_001375613.1:c.1368del NP_001362542.1:p.Lys457ArgfsTer?