Canonical Allele Identifier: CA2586969918

Gene: PROC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428661_127428664del , CM000664.2:g.127428661_127428664del	GRCh38
NC_000002.11:g.128186237_128186240del , CM000664.1:g.128186237_128186240del	GRCh37
NC_000002.10:g.127902707_127902710del	NCBI36
NG_016323.1:g.15242_15245del , LRG_599:g.15242_15245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1101_1104del MANE Select	ENSP00000234071.4:p.Val368ArgfsTer9
ENST00000234071.7:c.1101_1104del	ENSP00000234071.3:p.Val368ArgfsTer9
ENST00000402125.2:c.425_428del
ENST00000409048.1:c.1203_1206del	ENSP00000386679.1:p.Val402ArgfsTer9
NM_000312.3:c.1101_1104del , LRG_599t1:c.1101_1104del	NP_000303.1:p.Val368ArgfsTer9
XM_005263715.3:c.1284_1287del	XP_005263772.1:p.Val429ArgfsTer9
XM_005263716.3:c.1266_1269del	XP_005263773.1:p.Val423ArgfsTer9
XM_005263717.3:c.1164_1167del	XP_005263774.1:p.Val389ArgfsTer9
XR_923313.1:n.1332-400_1332-397del
XM_005263717.4:c.1164_1167del	XP_005263774.1:p.Val389ArgfsTer9
XM_017004505.1:c.1344_1347del	XP_016859994.1:p.Val449ArgfsTer9
XM_024453002.1:c.1446_1449del	XP_024308770.1:p.Val483ArgfsTer9
XM_024453003.1:c.1386_1389del	XP_024308771.1:p.Val463ArgfsTer9
XM_024453004.1:c.1284_1287del	XP_024308772.1:p.Val429ArgfsTer9
XM_024453005.1:c.1266_1269del	XP_024308773.1:p.Val423ArgfsTer9
XM_024453006.1:c.1203_1206del	XP_024308774.1:p.Val402ArgfsTer9
XR_001739705.1:n.3607-400_3607-397del
XR_923313.2:n.4043-400_4043-397del
NM_000312.4:c.1101_1104del MANE Select	NP_000303.1:p.Val368ArgfsTer9
NM_001375602.1:c.1284_1287del	NP_001362531.1:p.Val429ArgfsTer9
NM_001375603.1:c.1266_1269del	NP_001362532.1:p.Val423ArgfsTer9
NM_001375604.1:c.1164_1167del	NP_001362533.1:p.Val389ArgfsTer9
NM_001375605.1:c.1203_1206del	NP_001362534.1:p.Val402ArgfsTer9
NM_001375606.1:c.1269_1272del	NP_001362535.1:p.Val424ArgfsTer9
NM_001375607.1:c.1287_1290del	NP_001362536.1:p.Val430ArgfsTer9
NM_001375608.1:c.1044_1047del	NP_001362537.1:p.Val349ArgfsTer9
NM_001375609.1:c.1077_1080del	NP_001362538.1:p.Val360ArgfsTer9
NM_001375610.1:c.1095_1098del	NP_001362539.1:p.Val366ArgfsTer9
NM_001375611.1:c.1101_1104del	NP_001362540.1:p.Val368ArgfsTer9
NM_001375613.1:c.1101_1104del	NP_001362542.1:p.Val368ArgfsTer9