Canonical Allele Identifier: CA1859459

Gene: PROC

Linked Data

• dbSNP Id: rs763825989
• ExAC: 2:128185908 TCTGA / T
• gnomAD v2: 2-128185908-TCTGA-T
• gnomAD v3: 2-127428332-TCTGA-T
• gnomAD v4: 2-127428332-TCTGA-T
• MyVariant Identifiers: chr2:g.128185909_128185912del (hg19) ; chr2:g.127428334_127428337del (hg38) ; chr2:g.127428333_127428336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428336_127428339del , CM000664.2:g.127428336_127428339del	GRCh38
NC_000002.11:g.128185912_128185915del , CM000664.1:g.128185912_128185915del	GRCh37
NC_000002.10:g.127902382_127902385del	NCBI36
NG_016323.1:g.14917_14920del , LRG_599:g.14917_14920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.797-21_797-18del MANE Select	ENSP00000234071.4:n.797-21_797-18del
ENST00000234071.7:c.797-21_797-18del	ENSP00000234071.3:n.797-21_797-18del
ENST00000402125.2:c.121-21_121-18del
ENST00000409048.1:c.899-21_899-18del	ENSP00000386679.1:n.899-21_899-18del
NM_000312.3:c.797-21_797-18del , LRG_599t1:c.797-21_797-18del	NP_000303.1:n.797-21_797-18del
XM_005263715.3:c.980-21_980-18del	XP_005263772.1:n.980-21_980-18del
XM_005263716.3:c.962-21_962-18del	XP_005263773.1:n.962-21_962-18del
XM_005263717.3:c.860-21_860-18del	XP_005263774.1:n.860-21_860-18del
XR_923313.1:n.1332-72_1332-69del
XM_005263717.4:c.860-21_860-18del	XP_005263774.1:n.860-21_860-18del
XM_017004505.1:c.1040-21_1040-18del	XP_016859994.1:n.1040-21_1040-18del
XM_024453002.1:c.1142-21_1142-18del	XP_024308770.1:n.1142-21_1142-18del
XM_024453003.1:c.1082-21_1082-18del	XP_024308771.1:n.1082-21_1082-18del
XM_024453004.1:c.980-21_980-18del	XP_024308772.1:n.980-21_980-18del
XM_024453005.1:c.962-21_962-18del	XP_024308773.1:n.962-21_962-18del
XM_024453006.1:c.899-21_899-18del	XP_024308774.1:n.899-21_899-18del
XR_001739705.1:n.3607-72_3607-69del
XR_923313.2:n.4043-72_4043-69del
NM_000312.4:c.797-21_797-18del MANE Select	NP_000303.1:n.797-21_797-18del
NM_001375602.1:c.980-21_980-18del	NP_001362531.1:n.980-21_980-18del
NM_001375603.1:c.962-21_962-18del	NP_001362532.1:n.962-21_962-18del
NM_001375604.1:c.860-21_860-18del	NP_001362533.1:n.860-21_860-18del
NM_001375605.1:c.899-21_899-18del	NP_001362534.1:n.899-21_899-18del
NM_001375606.1:c.965-21_965-18del	NP_001362535.1:n.965-21_965-18del
NM_001375607.1:c.983-21_983-18del	NP_001362536.1:n.983-21_983-18del
NM_001375608.1:c.740-21_740-18del	NP_001362537.1:n.740-21_740-18del
NM_001375609.1:c.773-21_773-18del	NP_001362538.1:n.773-21_773-18del
NM_001375610.1:c.791-21_791-18del	NP_001362539.1:n.791-21_791-18del
NM_001375611.1:c.797-21_797-18del	NP_001362540.1:n.797-21_797-18del
NM_001375613.1:c.797-21_797-18del	NP_001362542.1:n.797-21_797-18del