Canonical Allele Identifier: CA337130
Gene: PROS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216868
ClinVar RCV Id: RCV000197344
dbSNP Id: rs863224838

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93893121delinsCC , CM000665.2:g.93893121delinsCC GRCh38
NC_000003.11:g.93611965delinsCC , CM000665.1:g.93611965delinsCC GRCh37
NC_000003.10:g.95094655delinsCC NCBI36
NG_009813.1:g.85970delinsGG , LRG_572:g.85970delinsGG

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.967delinsGG ENSP00000330021.7:p.Phe323GlyfsTer6
ENST00000394236.9:c.967delinsGG MANE Select ENSP00000377783.3:p.Phe323GlyfsTer6
ENST00000407433.6:c.922delinsGG ENSP00000385794.2:p.Phe308GlyfsTer6
ENST00000647936.1:c.967delinsGG ENSP00000496822.1:p.Phe323GlyfsTer6
ENST00000648381.1:n.1135delinsGG
ENST00000648853.1:c.925delinsGG ENSP00000497262.1:p.Phe309GlyfsTer6
ENST00000649103.1:c.1066delinsGG ENSP00000497962.1:n.1066delinsGG
ENST00000650591.1:c.1063delinsGG ENSP00000497376.1:p.Phe355GlyfsTer6
ENST00000394236.7:c.967delinsGG ENSP00000377783.3:p.Phe323GlyfsTer6
ENST00000407433.5:c.574delinsGG ENSP00000385794.1:p.Phe192GlyfsTer6
NM_000313.3:c.967delinsGG , LRG_572t1:c.967delinsGG NP_000304.2:p.Phe323GlyfsTer6
NM_001314077.1:c.1063delinsGG , LRG_572t2:c.1063delinsGG NP_001301006.1:p.Phe355GlyfsTer6
NM_000313.4:c.967delinsGG MANE Select NP_000304.2:p.Phe323GlyfsTer6
NM_001314077.2:c.1063delinsGG NP_001301006.1:p.Phe355GlyfsTer6