Canonical Allele Identifier: CA2586969917

Gene: PROC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428649_127428651del , CM000664.2:g.127428649_127428651del	GRCh38
NC_000002.11:g.128186225_128186227del , CM000664.1:g.128186225_128186227del	GRCh37
NC_000002.10:g.127902695_127902697del	NCBI36
NG_016323.1:g.15230_15232del , LRG_599:g.15230_15232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1089_1091del MANE Select	ENSP00000234071.4:p.Ile363_Lys364delinsMet
ENST00000234071.7:c.1089_1091del	ENSP00000234071.3:p.Ile363_Lys364delinsMet
ENST00000402125.2:c.413_415del
ENST00000409048.1:c.1191_1193del	ENSP00000386679.1:p.Ile397_Lys398delinsMet
NM_000312.3:c.1089_1091del , LRG_599t1:c.1089_1091del	NP_000303.1:p.Ile363_Lys364delinsMet
XM_005263715.3:c.1272_1274del	XP_005263772.1:p.Ile424_Lys425delinsMet
XM_005263716.3:c.1254_1256del	XP_005263773.1:p.Ile418_Lys419delinsMet
XM_005263717.3:c.1152_1154del	XP_005263774.1:p.Ile384_Lys385delinsMet
XR_923313.1:n.1332-387_1332-385del
XM_005263717.4:c.1152_1154del	XP_005263774.1:p.Ile384_Lys385delinsMet
XM_017004505.1:c.1332_1334del	XP_016859994.1:p.Ile444_Lys445delinsMet
XM_024453002.1:c.1434_1436del	XP_024308770.1:p.Ile478_Lys479delinsMet
XM_024453003.1:c.1374_1376del	XP_024308771.1:p.Ile458_Lys459delinsMet
XM_024453004.1:c.1272_1274del	XP_024308772.1:p.Ile424_Lys425delinsMet
XM_024453005.1:c.1254_1256del	XP_024308773.1:p.Ile418_Lys419delinsMet
XM_024453006.1:c.1191_1193del	XP_024308774.1:p.Ile397_Lys398delinsMet
XR_001739705.1:n.3607-387_3607-385del
XR_923313.2:n.4043-387_4043-385del
NM_000312.4:c.1089_1091del MANE Select	NP_000303.1:p.Ile363_Lys364delinsMet
NM_001375602.1:c.1272_1274del	NP_001362531.1:p.Ile424_Lys425delinsMet
NM_001375603.1:c.1254_1256del	NP_001362532.1:p.Ile418_Lys419delinsMet
NM_001375604.1:c.1152_1154del	NP_001362533.1:p.Ile384_Lys385delinsMet
NM_001375605.1:c.1191_1193del	NP_001362534.1:p.Ile397_Lys398delinsMet
NM_001375606.1:c.1257_1259del	NP_001362535.1:p.Ile419_Lys420delinsMet
NM_001375607.1:c.1275_1277del	NP_001362536.1:p.Ile425_Lys426delinsMet
NM_001375608.1:c.1032_1034del	NP_001362537.1:p.Ile344_Lys345delinsMet
NM_001375609.1:c.1065_1067del	NP_001362538.1:p.Ile355_Lys356delinsMet
NM_001375610.1:c.1083_1085del	NP_001362539.1:p.Ile361_Lys362delinsMet
NM_001375611.1:c.1089_1091del	NP_001362540.1:p.Ile363_Lys364delinsMet
NM_001375613.1:c.1089_1091del	NP_001362542.1:p.Ile363_Lys364delinsMet