Canonical Allele Identifier: CA2739279870

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2828789
• ClinVar RCV Id: RCV003643933

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900823del , CM000665.2:g.93900823del	GRCh38
NC_000003.11:g.93619667del , CM000665.1:g.93619667del	GRCh37
NC_000003.10:g.95102357del	NCBI36
NG_009813.1:g.78268del , LRG_572:g.78268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.708del	ENSP00000330021.7:p.Lys237AsnfsTer8
ENST00000394236.9:c.708del MANE Select	ENSP00000377783.3:p.Lys237AsnfsTer8
ENST00000407433.6:c.663del	ENSP00000385794.2:p.Lys222AsnfsTer8
ENST00000647936.1:c.708del	ENSP00000496822.1:p.Lys237AsnfsTer8
ENST00000648381.1:n.876del
ENST00000648853.1:c.666del	ENSP00000497262.1:p.Lys223AsnfsTer8
ENST00000649103.1:c.807del	ENSP00000497962.1:n.807del
ENST00000650591.1:c.804del	ENSP00000497376.1:p.Lys269AsnfsTer8
ENST00000394236.7:c.708del	ENSP00000377783.3:p.Lys237AsnfsTer8
ENST00000407433.5:c.315del	ENSP00000385794.1:p.Lys106AsnfsTer8
NM_000313.3:c.708del , LRG_572t1:c.708del	NP_000304.2:p.Lys237AsnfsTer8
NM_001314077.1:c.804del , LRG_572t2:c.804del	NP_001301006.1:p.Lys269AsnfsTer8
NM_000313.4:c.708del MANE Select	NP_000304.2:p.Lys237AsnfsTer8
NM_001314077.2:c.804del	NP_001301006.1:p.Lys269AsnfsTer8