Canonical Allele Identifier: CA1859327

Gene: PROC

Linked Data

• ClinVar Variation Id: 1169679
• ClinVar RCV Id: RCV001521279
• dbSNP Id: rs746387774
• ExAC: 2:128180751 A / AG
• gnomAD v2: 2-128180751-A-AG
• gnomAD v3: 2-127423175-A-AG
• gnomAD v4: 2-127423175-A-AG
• MyVariant Identifiers: chr2:g.128180751_128180752insG (hg19) ; chr2:g.127423175_127423176insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423180dup , CM000664.2:g.127423180dup	GRCh38
NC_000002.11:g.128180756dup , CM000664.1:g.128180756dup	GRCh37
NC_000002.10:g.127897226dup	NCBI36
NG_016323.1:g.9761dup , LRG_599:g.9761dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+9dup MANE Select	ENSP00000234071.4:n.400+9dup
ENST00000234071.7:c.400+9dup	ENSP00000234071.3:n.400+9dup
ENST00000409048.1:c.409dup	ENSP00000386679.1:p.Glu137GlyfsTer?
ENST00000419985.5:c.*215dup	ENSP00000392606.1:n.*215dup
ENST00000442644.5:c.400+9dup	ENSP00000411241.1:n.400+9dup
NM_000312.3:c.400+9dup , LRG_599t1:c.400+9dup	NP_000303.1:n.400+9dup
XM_005263715.3:c.583+9dup	XP_005263772.1:n.583+9dup
XM_005263716.3:c.472dup	XP_005263773.1:p.Glu158GlyfsTer?
XM_005263717.3:c.463+9dup	XP_005263774.1:n.463+9dup
XM_005263717.4:c.463+9dup	XP_005263774.1:n.463+9dup
XM_017004505.1:c.643+9dup	XP_016859994.1:n.643+9dup
XM_024453002.1:c.652dup	XP_024308770.1:p.Glu218GlyfsTer?
XM_024453003.1:c.592dup	XP_024308771.1:p.Glu198GlyfsTer?
XM_024453004.1:c.583+9dup	XP_024308772.1:n.583+9dup
XM_024453005.1:c.472dup	XP_024308773.1:p.Glu158GlyfsTer?
XM_024453006.1:c.409dup	XP_024308774.1:p.Glu137GlyfsTer?
NM_000312.4:c.400+9dup MANE Select	NP_000303.1:n.400+9dup
NM_001375602.1:c.583+9dup	NP_001362531.1:n.583+9dup
NM_001375603.1:c.472dup	NP_001362532.1:p.Glu158GlyfsTer?
NM_001375604.1:c.463+9dup	NP_001362533.1:n.463+9dup
NM_001375605.1:c.409dup	NP_001362534.1:p.Glu137GlyfsTer?
NM_001375606.1:c.564dup	NP_001362535.1:p.Arg189GlufsTer29
NM_001375607.1:c.493dup	NP_001362536.1:p.Glu165GlyfsTer?
NM_001375608.1:c.400+9dup	NP_001362537.1:n.400+9dup
NM_001375609.1:c.376+9dup	NP_001362538.1:n.376+9dup
NM_001375610.1:c.394+9dup	NP_001362539.1:n.394+9dup
NM_001375611.1:c.400+9dup	NP_001362540.1:n.400+9dup
NM_001375613.1:c.400+9dup	NP_001362542.1:n.400+9dup