Canonical Allele Identifier: CA756630933

Gene: PROC

Linked Data

• dbSNP Id: rs1298575252
• gnomAD v3: 2-127428587-GGCTACCACA-G
• gnomAD v4: 2-127428587-GGCTACCACA-G
• MyVariant Identifiers: chr2:g.128186164_128186172del (hg19) ; chr2:g.127428588_127428596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428590_127428598del , CM000664.2:g.127428590_127428598del	GRCh38
NC_000002.11:g.128186166_128186174del , CM000664.1:g.128186166_128186174del	GRCh37
NC_000002.10:g.127902636_127902644del	NCBI36
NG_016323.1:g.15171_15179del , LRG_599:g.15171_15179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1030_1038del MANE Select	ENSP00000234071.4:p.Tyr344_Ser346del
ENST00000234071.7:c.1030_1038del	ENSP00000234071.3:p.Tyr344_Ser346del
ENST00000402125.2:c.354_362del
ENST00000409048.1:c.1132_1140del	ENSP00000386679.1:p.Tyr378_Ser380del
NM_000312.3:c.1030_1038del , LRG_599t1:c.1030_1038del	NP_000303.1:p.Tyr344_Ser346del
XM_005263715.3:c.1213_1221del	XP_005263772.1:p.Tyr405_Ser407del
XM_005263716.3:c.1195_1203del	XP_005263773.1:p.Tyr399_Ser401del
XM_005263717.3:c.1093_1101del	XP_005263774.1:p.Tyr365_Ser367del
XR_923313.1:n.1332-332_1332-324del
XM_005263717.4:c.1093_1101del	XP_005263774.1:p.Tyr365_Ser367del
XM_017004505.1:c.1273_1281del	XP_016859994.1:p.Tyr425_Ser427del
XM_024453002.1:c.1375_1383del	XP_024308770.1:p.Tyr459_Ser461del
XM_024453003.1:c.1315_1323del	XP_024308771.1:p.Tyr439_Ser441del
XM_024453004.1:c.1213_1221del	XP_024308772.1:p.Tyr405_Ser407del
XM_024453005.1:c.1195_1203del	XP_024308773.1:p.Tyr399_Ser401del
XM_024453006.1:c.1132_1140del	XP_024308774.1:p.Tyr378_Ser380del
XR_001739705.1:n.3607-332_3607-324del
XR_923313.2:n.4043-332_4043-324del
NM_000312.4:c.1030_1038del MANE Select	NP_000303.1:p.Tyr344_Ser346del
NM_001375602.1:c.1213_1221del	NP_001362531.1:p.Tyr405_Ser407del
NM_001375603.1:c.1195_1203del	NP_001362532.1:p.Tyr399_Ser401del
NM_001375604.1:c.1093_1101del	NP_001362533.1:p.Tyr365_Ser367del
NM_001375605.1:c.1132_1140del	NP_001362534.1:p.Tyr378_Ser380del
NM_001375606.1:c.1198_1206del	NP_001362535.1:p.Tyr400_Ser402del
NM_001375607.1:c.1216_1224del	NP_001362536.1:p.Tyr406_Ser408del
NM_001375608.1:c.973_981del	NP_001362537.1:p.Tyr325_Ser327del
NM_001375609.1:c.1006_1014del	NP_001362538.1:p.Tyr336_Ser338del
NM_001375610.1:c.1024_1032del	NP_001362539.1:p.Tyr342_Ser344del
NM_001375611.1:c.1030_1038del	NP_001362540.1:p.Tyr344_Ser346del
NM_001375613.1:c.1030_1038del	NP_001362542.1:p.Tyr344_Ser346del