Canonical Allele Identifier: CA2586972690

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879254del , CM000665.2:g.93879254del	GRCh38
NC_000003.11:g.93598098del , CM000665.1:g.93598098del	GRCh37
NC_000003.10:g.95080788del	NCBI36
NG_009813.1:g.99837del , LRG_572:g.99837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1553del	ENSP00000330021.7:p.Thr518ArgfsTer?
ENST00000394236.9:c.1553del MANE Select	ENSP00000377783.3:p.Thr518ArgfsTer?
ENST00000407433.6:c.1508del	ENSP00000385794.2:p.Thr503ArgfsTer?
ENST00000647936.1:c.1553del	ENSP00000496822.1:p.Thr518ArgfsTer?
ENST00000648381.1:n.1721del
ENST00000648853.1:c.1511del	ENSP00000497262.1:p.Thr504ArgfsTer?
ENST00000649103.1:c.1652del	ENSP00000497962.1:n.1652del
ENST00000649585.1:c.496del	ENSP00000498163.1:n.496del
ENST00000650591.1:c.1649del	ENSP00000497376.1:p.Thr550ArgfsTer?
ENST00000394236.7:c.1553del	ENSP00000377783.3:p.Thr518ArgfsTer?
ENST00000407433.5:c.1160del	ENSP00000385794.1:p.Thr387ArgfsTer?
NM_000313.3:c.1553del , LRG_572t1:c.1553del	NP_000304.2:p.Thr518ArgfsTer?
NM_001314077.1:c.1649del , LRG_572t2:c.1649del	NP_001301006.1:p.Thr550ArgfsTer?
NM_000313.4:c.1553del MANE Select	NP_000304.2:p.Thr518ArgfsTer?
NM_001314077.2:c.1649del	NP_001301006.1:p.Thr550ArgfsTer?