Canonical Allele Identifier: CA658657323

Gene: PROS1

Linked Data

• ClinVar Variation Id: 472998
• ClinVar RCV Id: RCV000558347
• dbSNP Id: rs1553808038
• MyVariant Identifiers: chr3:g.93593129dup (hg19) ; chr3:g.93874285dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874285dup , CM000665.2:g.93874285dup	GRCh38
NC_000003.11:g.93593129dup , CM000665.1:g.93593129dup	GRCh37
NC_000003.10:g.95075819dup	NCBI36
NG_009813.1:g.104806dup , LRG_572:g.104806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1991dup	ENSP00000330021.7:p.His664GlnfsTer30
ENST00000394236.9:c.1991dup MANE Select	ENSP00000377783.3:p.His664GlnfsTer?
ENST00000407433.6:c.1946dup	ENSP00000385794.2:p.His649GlnfsTer?
ENST00000647936.1:c.*94dup	ENSP00000496822.1:n.*94dup
ENST00000648381.1:n.2159dup
ENST00000648853.1:c.1949dup	ENSP00000497262.1:p.His650GlnfsTer?
ENST00000650591.1:c.2087dup	ENSP00000497376.1:p.His696GlnfsTer?
ENST00000394236.7:c.1991dup	ENSP00000377783.3:p.His664GlnfsTer?
ENST00000407433.5:c.1598dup	ENSP00000385794.1:p.His533GlnfsTer?
NM_000313.3:c.1991dup , LRG_572t1:c.1991dup	NP_000304.2:p.His664GlnfsTer?
NM_001314077.1:c.2087dup , LRG_572t2:c.2087dup	NP_001301006.1:p.His696GlnfsTer?
NM_000313.4:c.1991dup MANE Select	NP_000304.2:p.His664GlnfsTer?
NM_001314077.2:c.2087dup	NP_001301006.1:p.His696GlnfsTer?