Canonical Allele Identifier: CA337130
Gene: PROS1 HGNC NCBI

Identifiers and link-outs to other resources

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
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
ENST00000394236.7:c.967delinsGG ENSP00000377783.3:p.Phe323GlyfsTer6
ENST00000407433.5:c.574delinsGG ENSP00000385794.1:p.Phe192GlyfsTer6