Canonical Allele Identifier: CA2577090324
Gene: PROC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428369_127428374del , CM000664.2:g.127428369_127428374del GRCh38
NC_000002.11:g.128185945_128185950del , CM000664.1:g.128185945_128185950del GRCh37
NC_000002.10:g.127902415_127902420del NCBI36
NG_016323.1:g.14950_14955del , LRG_599:g.14950_14955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.809_814del MANE Select ENSP00000234071.4:p.Leu270_Arg271del
ENST00000234071.7:c.809_814del ENSP00000234071.3:p.Leu270_Arg271del
ENST00000402125.2:c.133_138del
ENST00000409048.1:c.911_916del ENSP00000386679.1:p.Leu304_Arg305del
NM_000312.3:c.809_814del , LRG_599t1:c.809_814del NP_000303.1:p.Leu270_Arg271del
XM_005263715.3:c.992_997del XP_005263772.1:p.Leu331_Arg332del
XM_005263716.3:c.974_979del XP_005263773.1:p.Leu325_Arg326del
XM_005263717.3:c.872_877del XP_005263774.1:p.Leu291_Arg292del
XR_923313.1:n.1332-109_1332-104del
XM_005263717.4:c.872_877del XP_005263774.1:p.Leu291_Arg292del
XM_017004505.1:c.1052_1057del XP_016859994.1:p.Leu351_Arg352del
XM_024453002.1:c.1154_1159del XP_024308770.1:p.Leu385_Arg386del
XM_024453003.1:c.1094_1099del XP_024308771.1:p.Leu365_Arg366del
XM_024453004.1:c.992_997del XP_024308772.1:p.Leu331_Arg332del
XM_024453005.1:c.974_979del XP_024308773.1:p.Leu325_Arg326del
XM_024453006.1:c.911_916del XP_024308774.1:p.Leu304_Arg305del
XR_001739705.1:n.3607-109_3607-104del
XR_923313.2:n.4043-109_4043-104del
NM_000312.4:c.809_814del MANE Select NP_000303.1:p.Leu270_Arg271del
NM_001375602.1:c.992_997del NP_001362531.1:p.Leu331_Arg332del
NM_001375603.1:c.974_979del NP_001362532.1:p.Leu325_Arg326del
NM_001375604.1:c.872_877del NP_001362533.1:p.Leu291_Arg292del
NM_001375605.1:c.911_916del NP_001362534.1:p.Leu304_Arg305del
NM_001375606.1:c.977_982del NP_001362535.1:p.Leu326_Arg327del
NM_001375607.1:c.995_1000del NP_001362536.1:p.Leu332_Arg333del
NM_001375608.1:c.752_757del NP_001362537.1:p.Leu251_Arg252del
NM_001375609.1:c.785_790del NP_001362538.1:p.Leu262_Arg263del
NM_001375610.1:c.803_808del NP_001362539.1:p.Leu268_Arg269del
NM_001375611.1:c.809_814del NP_001362540.1:p.Leu270_Arg271del
NM_001375613.1:c.809_814del NP_001362542.1:p.Leu270_Arg271del