Canonical Allele Identifier: CA2586969909

Gene: PROC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428457_127428458del , CM000664.2:g.127428457_127428458del	GRCh38
NC_000002.11:g.128186033_128186034del , CM000664.1:g.128186033_128186034del	GRCh37
NC_000002.10:g.127902503_127902504del	NCBI36
NG_016323.1:g.15038_15039del , LRG_599:g.15038_15039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.897_898del MANE Select	ENSP00000234071.4:p.Ile300ArgfsTer?
ENST00000234071.7:c.897_898del	ENSP00000234071.3:p.Ile300ArgfsTer?
ENST00000402125.2:c.221_222del
ENST00000409048.1:c.999_1000del	ENSP00000386679.1:p.Ile334ArgfsTer?
NM_000312.3:c.897_898del , LRG_599t1:c.897_898del	NP_000303.1:p.Ile300ArgfsTer?
XM_005263715.3:c.1080_1081del	XP_005263772.1:p.Ile361ArgfsTer?
XM_005263716.3:c.1062_1063del	XP_005263773.1:p.Ile355ArgfsTer?
XM_005263717.3:c.960_961del	XP_005263774.1:p.Ile321ArgfsTer?
XR_923313.1:n.1332-193_1332-192del
XM_005263717.4:c.960_961del	XP_005263774.1:p.Ile321ArgfsTer?
XM_017004505.1:c.1140_1141del	XP_016859994.1:p.Ile381ArgfsTer?
XM_024453002.1:c.1242_1243del	XP_024308770.1:p.Ile415ArgfsTer?
XM_024453003.1:c.1182_1183del	XP_024308771.1:p.Ile395ArgfsTer?
XM_024453004.1:c.1080_1081del	XP_024308772.1:p.Ile361ArgfsTer?
XM_024453005.1:c.1062_1063del	XP_024308773.1:p.Ile355ArgfsTer?
XM_024453006.1:c.999_1000del	XP_024308774.1:p.Ile334ArgfsTer?
XR_001739705.1:n.3607-193_3607-192del
XR_923313.2:n.4043-193_4043-192del
NM_000312.4:c.897_898del MANE Select	NP_000303.1:p.Ile300ArgfsTer?
NM_001375602.1:c.1080_1081del	NP_001362531.1:p.Ile361ArgfsTer?
NM_001375603.1:c.1062_1063del	NP_001362532.1:p.Ile355ArgfsTer?
NM_001375604.1:c.960_961del	NP_001362533.1:p.Ile321ArgfsTer?
NM_001375605.1:c.999_1000del	NP_001362534.1:p.Ile334ArgfsTer?
NM_001375606.1:c.1065_1066del	NP_001362535.1:p.Ile356ArgfsTer?
NM_001375607.1:c.1083_1084del	NP_001362536.1:p.Ile362ArgfsTer?
NM_001375608.1:c.840_841del	NP_001362537.1:p.Ile281ArgfsTer?
NM_001375609.1:c.873_874del	NP_001362538.1:p.Ile292ArgfsTer?
NM_001375610.1:c.891_892del	NP_001362539.1:p.Ile298ArgfsTer?
NM_001375611.1:c.897_898del	NP_001362540.1:p.Ile300ArgfsTer?
NM_001375613.1:c.897_898del	NP_001362542.1:p.Ile300ArgfsTer?