Canonical Allele Identifier: CA2580063829

Gene: PROC

Linked Data

• ClinVar Variation Id: 2203147
• ClinVar RCV Id: RCV002664255 ; RCV003481406
• gnomAD v4: 2-127428466-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428467_127428468del , CM000664.2:g.127428467_127428468del	GRCh38
NC_000002.11:g.128186043_128186044del , CM000664.1:g.128186043_128186044del	GRCh37
NC_000002.10:g.127902513_127902514del	NCBI36
NG_016323.1:g.15048_15049del , LRG_599:g.15048_15049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.907_908del MANE Select	ENSP00000234071.4:p.Leu303AlafsTer?
ENST00000234071.7:c.907_908del	ENSP00000234071.3:p.Leu303AlafsTer?
ENST00000402125.2:c.231_232del
ENST00000409048.1:c.1009_1010del	ENSP00000386679.1:p.Leu337AlafsTer?
NM_000312.3:c.907_908del , LRG_599t1:c.907_908del	NP_000303.1:p.Leu303AlafsTer?
XM_005263715.3:c.1090_1091del	XP_005263772.1:p.Leu364AlafsTer?
XM_005263716.3:c.1072_1073del	XP_005263773.1:p.Leu358AlafsTer?
XM_005263717.3:c.970_971del	XP_005263774.1:p.Leu324AlafsTer?
XR_923313.1:n.1332-204_1332-203del
XM_005263717.4:c.970_971del	XP_005263774.1:p.Leu324AlafsTer?
XM_017004505.1:c.1150_1151del	XP_016859994.1:p.Leu384AlafsTer?
XM_024453002.1:c.1252_1253del	XP_024308770.1:p.Leu418AlafsTer?
XM_024453003.1:c.1192_1193del	XP_024308771.1:p.Leu398AlafsTer?
XM_024453004.1:c.1090_1091del	XP_024308772.1:p.Leu364AlafsTer?
XM_024453005.1:c.1072_1073del	XP_024308773.1:p.Leu358AlafsTer?
XM_024453006.1:c.1009_1010del	XP_024308774.1:p.Leu337AlafsTer?
XR_001739705.1:n.3607-204_3607-203del
XR_923313.2:n.4043-204_4043-203del
NM_000312.4:c.907_908del MANE Select	NP_000303.1:p.Leu303AlafsTer?
NM_001375602.1:c.1090_1091del	NP_001362531.1:p.Leu364AlafsTer?
NM_001375603.1:c.1072_1073del	NP_001362532.1:p.Leu358AlafsTer?
NM_001375604.1:c.970_971del	NP_001362533.1:p.Leu324AlafsTer?
NM_001375605.1:c.1009_1010del	NP_001362534.1:p.Leu337AlafsTer?
NM_001375606.1:c.1075_1076del	NP_001362535.1:p.Leu359AlafsTer?
NM_001375607.1:c.1093_1094del	NP_001362536.1:p.Leu365AlafsTer?
NM_001375608.1:c.850_851del	NP_001362537.1:p.Leu284AlafsTer?
NM_001375609.1:c.883_884del	NP_001362538.1:p.Leu295AlafsTer?
NM_001375610.1:c.901_902del	NP_001362539.1:p.Leu301AlafsTer?
NM_001375611.1:c.907_908del	NP_001362540.1:p.Leu303AlafsTer?
NM_001375613.1:c.907_908del	NP_001362542.1:p.Leu303AlafsTer?