Canonical Allele Identifier: CA2586972697
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896625dup , CM000665.2:g.93896625dup GRCh38
NC_000003.11:g.93615469dup , CM000665.1:g.93615469dup GRCh37
NC_000003.10:g.95098159dup NCBI36
NG_009813.1:g.82468dup , LRG_572:g.82468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.918dup ENSP00000330021.7:p.Ala307CysfsTer22
ENST00000394236.9:c.918dup MANE Select ENSP00000377783.3:p.Ala307CysfsTer22
ENST00000407433.6:c.873dup ENSP00000385794.2:p.Ala292CysfsTer22
ENST00000647936.1:c.918dup ENSP00000496822.1:p.Ala307CysfsTer22
ENST00000648381.1:n.1086dup
ENST00000648853.1:c.876dup ENSP00000497262.1:p.Ala293CysfsTer22
ENST00000649103.1:c.1017dup ENSP00000497962.1:n.1017dup
ENST00000650591.1:c.1014dup ENSP00000497376.1:p.Ala339CysfsTer22
ENST00000394236.7:c.918dup ENSP00000377783.3:p.Ala307CysfsTer22
ENST00000407433.5:c.525dup ENSP00000385794.1:p.Ala176CysfsTer22
NM_000313.3:c.918dup , LRG_572t1:c.918dup NP_000304.2:p.Ala307CysfsTer22
NM_001314077.1:c.1014dup , LRG_572t2:c.1014dup NP_001301006.1:p.Ala339CysfsTer22
NM_000313.4:c.918dup MANE Select NP_000304.2:p.Ala307CysfsTer22
NM_001314077.2:c.1014dup NP_001301006.1:p.Ala339CysfsTer22