Canonical Allele Identifier: CA2586972691

Gene: PROS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879255_93879256delinsC , CM000665.2:g.93879255_93879256delinsC	GRCh38
NC_000003.11:g.93598099_93598100delinsC , CM000665.1:g.93598099_93598100delinsC	GRCh37
NC_000003.10:g.95080789_95080790delinsC	NCBI36
NG_009813.1:g.99835_99836delinsG , LRG_572:g.99835_99836delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1551_1552delinsG	ENSP00000330021.7:p.Thr518ArgfsTer?
ENST00000394236.9:c.1551_1552delinsG MANE Select	ENSP00000377783.3:p.Thr518ArgfsTer?
ENST00000407433.6:c.1506_1507delinsG	ENSP00000385794.2:p.Thr503ArgfsTer?
ENST00000647936.1:c.1551_1552delinsG	ENSP00000496822.1:p.Thr518ArgfsTer?
ENST00000648381.1:n.1719_1720delinsG
ENST00000648853.1:c.1509_1510delinsG	ENSP00000497262.1:p.Thr504ArgfsTer?
ENST00000649103.1:c.1650_1651delinsG	ENSP00000497962.1:n.1650_1651delinsG
ENST00000649585.1:c.494_495delinsG	ENSP00000498163.1:n.494_495delinsG
ENST00000650591.1:c.1647_1648delinsG	ENSP00000497376.1:p.Thr550ArgfsTer?
ENST00000394236.7:c.1551_1552delinsG	ENSP00000377783.3:p.Thr518ArgfsTer?
ENST00000407433.5:c.1158_1159delinsG	ENSP00000385794.1:p.Thr387ArgfsTer?
NM_000313.3:c.1551_1552delinsG , LRG_572t1:c.1551_1552delinsG	NP_000304.2:p.Thr518ArgfsTer?
NM_001314077.1:c.1647_1648delinsG , LRG_572t2:c.1647_1648delinsG	NP_001301006.1:p.Thr550ArgfsTer?
NM_000313.4:c.1551_1552delinsG MANE Select	NP_000304.2:p.Thr518ArgfsTer?
NM_001314077.2:c.1647_1648delinsG	NP_001301006.1:p.Thr550ArgfsTer?