Canonical Allele Identifier: CA2660997778

Gene: PROC

Linked Data

• gnomAD v4: 2-127428513-TCTGCCTCCCGGACAGCGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428516_127428534del , CM000664.2:g.127428516_127428534del	GRCh38
NC_000002.11:g.128186092_128186110del , CM000664.1:g.128186092_128186110del	GRCh37
NC_000002.10:g.127902562_127902580del	NCBI36
NG_016323.1:g.15097_15115del , LRG_599:g.15097_15115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.956_974del MANE Select	ENSP00000234071.4:p.Cys319LeufsTer15
ENST00000234071.7:c.956_974del	ENSP00000234071.3:p.Cys319LeufsTer15
ENST00000402125.2:c.280_298del
ENST00000409048.1:c.1058_1076del	ENSP00000386679.1:p.Cys353LeufsTer15
NM_000312.3:c.956_974del , LRG_599t1:c.956_974del	NP_000303.1:p.Cys319LeufsTer15
XM_005263715.3:c.1139_1157del	XP_005263772.1:p.Cys380LeufsTer15
XM_005263716.3:c.1121_1139del	XP_005263773.1:p.Cys374LeufsTer15
XM_005263717.3:c.1019_1037del	XP_005263774.1:p.Cys340LeufsTer15
XR_923313.1:n.1332-268_1332-250del
XM_005263717.4:c.1019_1037del	XP_005263774.1:p.Cys340LeufsTer15
XM_017004505.1:c.1199_1217del	XP_016859994.1:p.Cys400LeufsTer15
XM_024453002.1:c.1301_1319del	XP_024308770.1:p.Cys434LeufsTer15
XM_024453003.1:c.1241_1259del	XP_024308771.1:p.Cys414LeufsTer15
XM_024453004.1:c.1139_1157del	XP_024308772.1:p.Cys380LeufsTer15
XM_024453005.1:c.1121_1139del	XP_024308773.1:p.Cys374LeufsTer15
XM_024453006.1:c.1058_1076del	XP_024308774.1:p.Cys353LeufsTer15
XR_001739705.1:n.3607-268_3607-250del
XR_923313.2:n.4043-268_4043-250del
NM_000312.4:c.956_974del MANE Select	NP_000303.1:p.Cys319LeufsTer15
NM_001375602.1:c.1139_1157del	NP_001362531.1:p.Cys380LeufsTer15
NM_001375603.1:c.1121_1139del	NP_001362532.1:p.Cys374LeufsTer15
NM_001375604.1:c.1019_1037del	NP_001362533.1:p.Cys340LeufsTer15
NM_001375605.1:c.1058_1076del	NP_001362534.1:p.Cys353LeufsTer15
NM_001375606.1:c.1124_1142del	NP_001362535.1:p.Cys375LeufsTer15
NM_001375607.1:c.1142_1160del	NP_001362536.1:p.Cys381LeufsTer15
NM_001375608.1:c.899_917del	NP_001362537.1:p.Cys300LeufsTer15
NM_001375609.1:c.932_950del	NP_001362538.1:p.Cys311LeufsTer15
NM_001375610.1:c.950_968del	NP_001362539.1:p.Cys317LeufsTer15
NM_001375611.1:c.956_974del	NP_001362540.1:p.Cys319LeufsTer15
NM_001375613.1:c.956_974del	NP_001362542.1:p.Cys319LeufsTer15