Canonical Allele Identifier: CA535639811
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs1558715885

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426112del , CM000664.2:g.127426112del GRCh38
NC_000002.11:g.128183688del , CM000664.1:g.128183688del GRCh37
NC_000002.10:g.127900158del NCBI36
NG_016323.1:g.12693del , LRG_599:g.12693del

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.563del MANE Select ENSP00000234071.4:p.Lys188SerfsTer10
ENST00000234071.7:c.563del ENSP00000234071.3:p.Lys188SerfsTer10
ENST00000402125.2:c.121-2245del
ENST00000409048.1:c.665del ENSP00000386679.1:p.Lys222SerfsTer10
ENST00000442644.5:c.506del ENSP00000411241.1:p.Lys169SerfsTer?
ENST00000464089.1:n.149del
NM_000312.3:c.563del , LRG_599t1:c.563del NP_000303.1:p.Lys188SerfsTer10
XM_005263715.3:c.746del XP_005263772.1:p.Lys249SerfsTer10
XM_005263716.3:c.728del XP_005263773.1:p.Lys243SerfsTer10
XM_005263717.3:c.626del XP_005263774.1:p.Lys209SerfsTer10
XM_005263717.4:c.626del XP_005263774.1:p.Lys209SerfsTer10
XM_017004505.1:c.806del XP_016859994.1:p.Lys269SerfsTer10
XM_024453002.1:c.908del XP_024308770.1:p.Lys303SerfsTer10
XM_024453003.1:c.848del XP_024308771.1:p.Lys283SerfsTer10
XM_024453004.1:c.746del XP_024308772.1:p.Lys249SerfsTer10
XM_024453005.1:c.728del XP_024308773.1:p.Lys243SerfsTer10
XM_024453006.1:c.665del XP_024308774.1:p.Lys222SerfsTer10
XR_923313.2:n.4474del
NM_000312.4:c.563del MANE Select NP_000303.1:p.Lys188SerfsTer10
NM_001375602.1:c.746del NP_001362531.1:p.Lys249SerfsTer10
NM_001375603.1:c.728del NP_001362532.1:p.Lys243SerfsTer10
NM_001375604.1:c.626del NP_001362533.1:p.Lys209SerfsTer10
NM_001375605.1:c.665del NP_001362534.1:p.Lys222SerfsTer10
NM_001375606.1:c.731del NP_001362535.1:p.Lys244SerfsTer10
NM_001375607.1:c.749del NP_001362536.1:p.Lys250SerfsTer10
NM_001375608.1:c.506del NP_001362537.1:p.Lys169SerfsTer10
NM_001375609.1:c.539del NP_001362538.1:p.Lys180SerfsTer10
NM_001375610.1:c.557del NP_001362539.1:p.Lys186SerfsTer10
NM_001375611.1:c.563del NP_001362540.1:p.Lys188SerfsTer10
NM_001375613.1:c.563del NP_001362542.1:p.Lys188SerfsTer10