Canonical Allele Identifier: CA2601755730

Gene: PROS1

Linked Data

• dbSNP Id: rs2107161463
• gnomAD v3: 3-93900528-AAT-A
• gnomAD v4: 3-93900528-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900531_93900532del , CM000665.2:g.93900531_93900532del	GRCh38
NC_000003.11:g.93619375_93619376del , CM000665.1:g.93619375_93619376del	GRCh37
NC_000003.10:g.95102065_95102066del	NCBI36
NG_009813.1:g.78561_78562del , LRG_572:g.78561_78562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727+274_727+275del	ENSP00000330021.7:n.727+274_727+275del
ENST00000394236.9:c.727+274_727+275del MANE Select	ENSP00000377783.3:n.727+274_727+275del
ENST00000407433.6:c.682+274_682+275del	ENSP00000385794.2:n.682+274_682+275del
ENST00000647936.1:c.727+274_727+275del	ENSP00000496822.1:n.727+274_727+275del
ENST00000648381.1:n.895+274_895+275del
ENST00000648853.1:c.685+274_685+275del	ENSP00000497262.1:n.685+274_685+275del
ENST00000649103.1:c.826+274_826+275del	ENSP00000497962.1:n.826+274_826+275del
ENST00000650591.1:c.823+274_823+275del	ENSP00000497376.1:n.823+274_823+275del
ENST00000394236.7:c.727+274_727+275del	ENSP00000377783.3:n.727+274_727+275del
ENST00000407433.5:c.334+274_334+275del	ENSP00000385794.1:n.334+274_334+275del
NM_000313.3:c.727+274_727+275del , LRG_572t1:c.727+274_727+275del	NP_000304.2:n.727+274_727+275del
NM_001314077.1:c.823+274_823+275del , LRG_572t2:c.823+274_823+275del	NP_001301006.1:n.823+274_823+275del
NM_000313.4:c.727+274_727+275del MANE Select	NP_000304.2:n.727+274_727+275del
NM_001314077.2:c.823+274_823+275del	NP_001301006.1:n.823+274_823+275del