Canonical Allele Identifier: CA915941517
Community Standard Title: NM_000313.4(PROS1):c.550del (p.Cys184ValfsTer24)
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905835del , CM000665.2:g.93905835del GRCh38
NC_000003.11:g.93624679del , CM000665.1:g.93624679del GRCh37
NC_000003.10:g.95107369del NCBI36
NG_009813.1:g.73256del , LRG_572:g.73256del

Transcript Alleles

HGVS Amino-acid Change
NM_000313.4:c.550del MANE Select NP_000304.2:p.Cys184ValfsTer24
ENST00000394236.9:c.550del MANE Select ENSP00000377783.3:p.Cys184ValfsTer24
NM_000313.3:c.550del , LRG_572t1:c.550del NP_000304.2:p.Cys184ValfsTer24
NM_001314077.1:c.646del , LRG_572t2:c.646del NP_001301006.1:p.Cys216ValfsTer24
NM_001314077.2:c.646del NP_001301006.1:p.Cys216ValfsTer24
ENST00000348974.4:c.646del ENSP00000330021.6:p.Cys216ValfsTer?
ENST00000348974.5:c.550del ENSP00000330021.7:p.Cys184ValfsTer24
ENST00000394236.7:c.550del ENSP00000377783.3:p.Cys184ValfsTer24
ENST00000407433.5:c.157del ENSP00000385794.1:p.Cys53ValfsTer24
ENST00000407433.6:c.550del ENSP00000385794.2:p.Cys184ValfsTer9
ENST00000472684.1:c.157del ENSP00000419616.1:p.Cys53ValfsTer?
ENST00000472684.2:c.157del ENSP00000419616.2:p.Cys53ValfsTer?
ENST00000647936.1:c.550del ENSP00000496822.1:p.Cys184ValfsTer24
ENST00000648381.1:n.718del
ENST00000648853.1:c.508del ENSP00000497262.1:p.Cys170ValfsTer24
ENST00000649103.1:c.649del ENSP00000497962.1:n.649del
ENST00000650591.1:c.646del ENSP00000497376.1:p.Cys216ValfsTer24