Canonical Allele Identifier: CA2586972698
Gene: PROS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896642_93896646del , CM000665.2:g.93896642_93896646del GRCh38
NC_000003.11:g.93615486_93615490del , CM000665.1:g.93615486_93615490del GRCh37
NC_000003.10:g.95098176_95098180del NCBI36
NG_009813.1:g.82451_82455del , LRG_572:g.82451_82455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.901_905del ENSP00000330021.7:p.Tyr301GlyfsTer26
ENST00000394236.9:c.901_905del MANE Select ENSP00000377783.3:p.Tyr301GlyfsTer26
ENST00000407433.6:c.856_860del ENSP00000385794.2:p.Tyr286GlyfsTer26
ENST00000647936.1:c.901_905del ENSP00000496822.1:p.Tyr301GlyfsTer26
ENST00000648381.1:n.1069_1073del
ENST00000648853.1:c.859_863del ENSP00000497262.1:p.Tyr287GlyfsTer26
ENST00000649103.1:c.1000_1004del ENSP00000497962.1:n.1000_1004del
ENST00000650591.1:c.997_1001del ENSP00000497376.1:p.Tyr333GlyfsTer26
ENST00000394236.7:c.901_905del ENSP00000377783.3:p.Tyr301GlyfsTer26
ENST00000407433.5:c.508_512del ENSP00000385794.1:p.Tyr170GlyfsTer26
NM_000313.3:c.901_905del , LRG_572t1:c.901_905del NP_000304.2:p.Tyr301GlyfsTer26
NM_001314077.1:c.997_1001del , LRG_572t2:c.997_1001del NP_001301006.1:p.Tyr333GlyfsTer26
NM_000313.4:c.901_905del MANE Select NP_000304.2:p.Tyr301GlyfsTer26
NM_001314077.2:c.997_1001del NP_001301006.1:p.Tyr333GlyfsTer26