Canonical Allele Identifier: CA1050951798

Gene: PROS1

Linked Data

• dbSNP Id: rs1708576853
• gnomAD v3: 3-93900552-C-CTTGTTTTT
• gnomAD v4: 3-93900552-C-CTTGTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900552_93900553insTTGTTTTT , CM000665.2:g.93900552_93900553insTTGTTTTT	GRCh38
NC_000003.11:g.93619396_93619397insTTGTTTTT , CM000665.1:g.93619396_93619397insTTGTTTTT	GRCh37
NC_000003.10:g.95102086_95102087insTTGTTTTT	NCBI36
NG_009813.1:g.78538_78539insAAAAACAA , LRG_572:g.78538_78539insAAAAACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727+251_727+252insAAAAACAA	ENSP00000330021.7:n.727+251_727+252insAAAAACAA
ENST00000394236.9:c.727+251_727+252insAAAAACAA MANE Select	ENSP00000377783.3:n.727+251_727+252insAAAAACAA
ENST00000407433.6:c.682+251_682+252insAAAAACAA	ENSP00000385794.2:n.682+251_682+252insAAAAACAA
ENST00000647936.1:c.727+251_727+252insAAAAACAA	ENSP00000496822.1:n.727+251_727+252insAAAAACAA
ENST00000648381.1:n.895+251_895+252insAAAAACAA
ENST00000648853.1:c.685+251_685+252insAAAAACAA	ENSP00000497262.1:n.685+251_685+252insAAAAACAA
ENST00000649103.1:c.826+251_826+252insAAAAACAA	ENSP00000497962.1:n.826+251_826+252insAAAAACAA
ENST00000650591.1:c.823+251_823+252insAAAAACAA	ENSP00000497376.1:n.823+251_823+252insAAAAACAA
ENST00000394236.7:c.727+251_727+252insAAAAACAA	ENSP00000377783.3:n.727+251_727+252insAAAAACAA
ENST00000407433.5:c.334+251_334+252insAAAAACAA	ENSP00000385794.1:n.334+251_334+252insAAAAACAA
NM_000313.3:c.727+251_727+252insAAAAACAA , LRG_572t1:c.727+251_727+252insAAAAACAA	NP_000304.2:n.727+251_727+252insAAAAACAA
NM_001314077.1:c.823+251_823+252insAAAAACAA , LRG_572t2:c.823+251_823+252insAAAAACAA	NP_001301006.1:n.823+251_823+252insAAAAACAA
NM_000313.4:c.727+251_727+252insAAAAACAA MANE Select	NP_000304.2:n.727+251_727+252insAAAAACAA
NM_001314077.2:c.823+251_823+252insAAAAACAA	NP_001301006.1:n.823+251_823+252insAAAAACAA