Canonical Allele Identifier: CA2660997781

Gene: PROC

Linked Data

• gnomAD v4: 2-127428599-A-AGCCGAGAGAAGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428603_127428616dup , CM000664.2:g.127428603_127428616dup	GRCh38
NC_000002.11:g.128186179_128186192dup , CM000664.1:g.128186179_128186192dup	GRCh37
NC_000002.10:g.127902649_127902662dup	NCBI36
NG_016323.1:g.15184_15197dup , LRG_599:g.15184_15197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1043_1056dup MANE Select	ENSP00000234071.4:p.Lys353GlufsTer30
ENST00000234071.7:c.1043_1056dup	ENSP00000234071.3:p.Lys353GlufsTer30
ENST00000402125.2:c.367_380dup
ENST00000409048.1:c.1145_1158dup	ENSP00000386679.1:p.Lys387GlufsTer30
NM_000312.3:c.1043_1056dup , LRG_599t1:c.1043_1056dup	NP_000303.1:p.Lys353GlufsTer30
XM_005263715.3:c.1226_1239dup	XP_005263772.1:p.Lys414GlufsTer30
XM_005263716.3:c.1208_1221dup	XP_005263773.1:p.Lys408GlufsTer30
XM_005263717.3:c.1106_1119dup	XP_005263774.1:p.Lys374GlufsTer30
XR_923313.1:n.1332-349_1332-336dup
XM_005263717.4:c.1106_1119dup	XP_005263774.1:p.Lys374GlufsTer30
XM_017004505.1:c.1286_1299dup	XP_016859994.1:p.Lys434GlufsTer30
XM_024453002.1:c.1388_1401dup	XP_024308770.1:p.Lys468GlufsTer30
XM_024453003.1:c.1328_1341dup	XP_024308771.1:p.Lys448GlufsTer30
XM_024453004.1:c.1226_1239dup	XP_024308772.1:p.Lys414GlufsTer30
XM_024453005.1:c.1208_1221dup	XP_024308773.1:p.Lys408GlufsTer30
XM_024453006.1:c.1145_1158dup	XP_024308774.1:p.Lys387GlufsTer30
XR_001739705.1:n.3607-349_3607-336dup
XR_923313.2:n.4043-349_4043-336dup
NM_000312.4:c.1043_1056dup MANE Select	NP_000303.1:p.Lys353GlufsTer30
NM_001375602.1:c.1226_1239dup	NP_001362531.1:p.Lys414GlufsTer30
NM_001375603.1:c.1208_1221dup	NP_001362532.1:p.Lys408GlufsTer30
NM_001375604.1:c.1106_1119dup	NP_001362533.1:p.Lys374GlufsTer30
NM_001375605.1:c.1145_1158dup	NP_001362534.1:p.Lys387GlufsTer30
NM_001375606.1:c.1211_1224dup	NP_001362535.1:p.Lys409GlufsTer30
NM_001375607.1:c.1229_1242dup	NP_001362536.1:p.Lys415GlufsTer30
NM_001375608.1:c.986_999dup	NP_001362537.1:p.Lys334GlufsTer30
NM_001375609.1:c.1019_1032dup	NP_001362538.1:p.Lys345GlufsTer30
NM_001375610.1:c.1037_1050dup	NP_001362539.1:p.Lys351GlufsTer30
NM_001375611.1:c.1043_1056dup	NP_001362540.1:p.Lys353GlufsTer30
NM_001375613.1:c.1043_1056dup	NP_001362542.1:p.Lys353GlufsTer30