Canonical Allele Identifier: CA2586972696
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896619del , CM000665.2:g.93896619del GRCh38
NC_000003.11:g.93615463del , CM000665.1:g.93615463del GRCh37
NC_000003.10:g.95098153del NCBI36
NG_009813.1:g.82475del , LRG_572:g.82475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.925del ENSP00000330021.7:p.Val309LeufsTer5
ENST00000394236.9:c.925del MANE Select ENSP00000377783.3:p.Val309LeufsTer5
ENST00000407433.6:c.880del ENSP00000385794.2:p.Val294LeufsTer5
ENST00000647936.1:c.925del ENSP00000496822.1:p.Val309LeufsTer5
ENST00000648381.1:n.1093del
ENST00000648853.1:c.883del ENSP00000497262.1:p.Val295LeufsTer5
ENST00000649103.1:c.1024del ENSP00000497962.1:n.1024del
ENST00000650591.1:c.1021del ENSP00000497376.1:p.Val341LeufsTer5
ENST00000394236.7:c.925del ENSP00000377783.3:p.Val309LeufsTer5
ENST00000407433.5:c.532del ENSP00000385794.1:p.Val178LeufsTer5
NM_000313.3:c.925del , LRG_572t1:c.925del NP_000304.2:p.Val309LeufsTer5
NM_001314077.1:c.1021del , LRG_572t2:c.1021del NP_001301006.1:p.Val341LeufsTer5
NM_000313.4:c.925del MANE Select NP_000304.2:p.Val309LeufsTer5
NM_001314077.2:c.1021del NP_001301006.1:p.Val341LeufsTer5