Canonical Allele Identifier: CA2586972702
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896681dup , CM000665.2:g.93896681dup GRCh38
NC_000003.11:g.93615525dup , CM000665.1:g.93615525dup GRCh37
NC_000003.10:g.95098215dup NCBI36
NG_009813.1:g.82410dup , LRG_572:g.82410dup

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.860dup ENSP00000330021.7:p.Cys288ValfsTer7
ENST00000394236.9:c.860dup MANE Select ENSP00000377783.3:p.Cys288ValfsTer7
ENST00000407433.6:c.815dup ENSP00000385794.2:p.Cys273ValfsTer7
ENST00000647936.1:c.860dup ENSP00000496822.1:p.Cys288ValfsTer7
ENST00000648381.1:n.1028dup
ENST00000648853.1:c.818dup ENSP00000497262.1:p.Cys274ValfsTer7
ENST00000649103.1:c.959dup ENSP00000497962.1:n.959dup
ENST00000650591.1:c.956dup ENSP00000497376.1:p.Cys320ValfsTer7
ENST00000394236.7:c.860dup ENSP00000377783.3:p.Cys288ValfsTer7
ENST00000407433.5:c.467dup ENSP00000385794.1:p.Cys157ValfsTer7
NM_000313.3:c.860dup , LRG_572t1:c.860dup NP_000304.2:p.Cys288ValfsTer7
NM_001314077.1:c.956dup , LRG_572t2:c.956dup NP_001301006.1:p.Cys320ValfsTer7
NM_000313.4:c.860dup MANE Select NP_000304.2:p.Cys288ValfsTer7
NM_001314077.2:c.956dup NP_001301006.1:p.Cys320ValfsTer7