Canonical Allele Identifier: CA2660997780

Gene: PROC

Linked Data

• gnomAD v4: 2-127428575-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428576dup , CM000664.2:g.127428576dup	GRCh38
NC_000002.11:g.128186152dup , CM000664.1:g.128186152dup	GRCh37
NC_000002.10:g.127902622dup	NCBI36
NG_016323.1:g.15157dup , LRG_599:g.15157dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1016dup MANE Select	ENSP00000234071.4:p.Thr340AspfsTer?
ENST00000234071.7:c.1016dup	ENSP00000234071.3:p.Thr340AspfsTer?
ENST00000402125.2:c.340dup
ENST00000409048.1:c.1118dup	ENSP00000386679.1:p.Thr374AspfsTer?
NM_000312.3:c.1016dup , LRG_599t1:c.1016dup	NP_000303.1:p.Thr340AspfsTer?
XM_005263715.3:c.1199dup	XP_005263772.1:p.Thr401AspfsTer?
XM_005263716.3:c.1181dup	XP_005263773.1:p.Thr395AspfsTer?
XM_005263717.3:c.1079dup	XP_005263774.1:p.Thr361AspfsTer?
XR_923313.1:n.1332-312dup
XM_005263717.4:c.1079dup	XP_005263774.1:p.Thr361AspfsTer?
XM_017004505.1:c.1259dup	XP_016859994.1:p.Thr421AspfsTer?
XM_024453002.1:c.1361dup	XP_024308770.1:p.Thr455AspfsTer?
XM_024453003.1:c.1301dup	XP_024308771.1:p.Thr435AspfsTer?
XM_024453004.1:c.1199dup	XP_024308772.1:p.Thr401AspfsTer?
XM_024453005.1:c.1181dup	XP_024308773.1:p.Thr395AspfsTer?
XM_024453006.1:c.1118dup	XP_024308774.1:p.Thr374AspfsTer?
XR_001739705.1:n.3607-312dup
XR_923313.2:n.4043-312dup
NM_000312.4:c.1016dup MANE Select	NP_000303.1:p.Thr340AspfsTer?
NM_001375602.1:c.1199dup	NP_001362531.1:p.Thr401AspfsTer?
NM_001375603.1:c.1181dup	NP_001362532.1:p.Thr395AspfsTer?
NM_001375604.1:c.1079dup	NP_001362533.1:p.Thr361AspfsTer?
NM_001375605.1:c.1118dup	NP_001362534.1:p.Thr374AspfsTer?
NM_001375606.1:c.1184dup	NP_001362535.1:p.Thr396AspfsTer?
NM_001375607.1:c.1202dup	NP_001362536.1:p.Thr402AspfsTer?
NM_001375608.1:c.959dup	NP_001362537.1:p.Thr321AspfsTer?
NM_001375609.1:c.992dup	NP_001362538.1:p.Thr332AspfsTer?
NM_001375610.1:c.1010dup	NP_001362539.1:p.Thr338AspfsTer?
NM_001375611.1:c.1016dup	NP_001362540.1:p.Thr340AspfsTer?
NM_001375613.1:c.1016dup	NP_001362542.1:p.Thr340AspfsTer?