Canonical Allele Identifier: CA544751151

Gene: PROS1

Linked Data

• dbSNP Id: rs1457084623
• gnomAD v2: 3-93619608-AC-A
• MyVariant Identifiers: chr3:g.93619609del (hg19) ; chr3:g.93900765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900767del , CM000665.2:g.93900767del	GRCh38
NC_000003.11:g.93619611del , CM000665.1:g.93619611del	GRCh37
NC_000003.10:g.95102301del	NCBI36
NG_009813.1:g.78326del , LRG_572:g.78326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727+39del	ENSP00000330021.7:n.727+39del
ENST00000394236.9:c.727+39del MANE Select	ENSP00000377783.3:n.727+39del
ENST00000407433.6:c.682+39del	ENSP00000385794.2:n.682+39del
ENST00000647936.1:c.727+39del	ENSP00000496822.1:n.727+39del
ENST00000648381.1:n.895+39del
ENST00000648853.1:c.685+39del	ENSP00000497262.1:n.685+39del
ENST00000649103.1:c.826+39del	ENSP00000497962.1:n.826+39del
ENST00000650591.1:c.823+39del	ENSP00000497376.1:n.823+39del
ENST00000394236.7:c.727+39del	ENSP00000377783.3:n.727+39del
ENST00000407433.5:c.334+39del	ENSP00000385794.1:n.334+39del
NM_000313.3:c.727+39del , LRG_572t1:c.727+39del	NP_000304.2:n.727+39del
NM_001314077.1:c.823+39del , LRG_572t2:c.823+39del	NP_001301006.1:n.823+39del
NM_000313.4:c.727+39del MANE Select	NP_000304.2:n.727+39del
NM_001314077.2:c.823+39del	NP_001301006.1:n.823+39del