Canonical Allele Identifier: CA2503366

Gene: PROS1

Linked Data

• dbSNP Id: rs774711924
• ExAC: 3:93617346 G / GC
• gnomAD v4: 3-93898502-G-GC
• MyVariant Identifiers: chr3:g.93617346_93617347insC (hg19) ; chr3:g.93898502_93898503insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898503dup , CM000665.2:g.93898503dup	GRCh38
NC_000003.11:g.93617347dup , CM000665.1:g.93617347dup	GRCh37
NC_000003.10:g.95100037dup	NCBI36
NG_009813.1:g.80588dup , LRG_572:g.80588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.794dup	ENSP00000330021.7:p.Cys265TrpfsTer4
ENST00000394236.9:c.794dup MANE Select	ENSP00000377783.3:p.Cys265TrpfsTer4
ENST00000407433.6:c.749dup	ENSP00000385794.2:p.Cys250TrpfsTer4
ENST00000647936.1:c.794dup	ENSP00000496822.1:p.Cys265TrpfsTer4
ENST00000648381.1:n.962dup
ENST00000648853.1:c.752dup	ENSP00000497262.1:p.Cys251TrpfsTer4
ENST00000649103.1:c.893dup	ENSP00000497962.1:n.893dup
ENST00000650591.1:c.890dup	ENSP00000497376.1:p.Cys297TrpfsTer4
ENST00000394236.7:c.794dup	ENSP00000377783.3:p.Cys265TrpfsTer4
ENST00000407433.5:c.401dup	ENSP00000385794.1:p.Cys134TrpfsTer4
NM_000313.3:c.794dup , LRG_572t1:c.794dup	NP_000304.2:p.Cys265TrpfsTer4
NM_001314077.1:c.890dup , LRG_572t2:c.890dup	NP_001301006.1:p.Cys297TrpfsTer4
NM_000313.4:c.794dup MANE Select	NP_000304.2:p.Cys265TrpfsTer4
NM_001314077.2:c.890dup	NP_001301006.1:p.Cys297TrpfsTer4