Canonical Allele Identifier: CA2666654363

Gene: PROS1

Linked Data

• gnomAD v4: 3-93876967-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876969del , CM000665.2:g.93876969del	GRCh38
NC_000003.11:g.93595813del , CM000665.1:g.93595813del	GRCh37
NC_000003.10:g.95078503del	NCBI36
NG_009813.1:g.102123del , LRG_572:g.102123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1868del	ENSP00000330021.7:p.Pro623GlnfsTer10
ENST00000394236.9:c.1868del MANE Select	ENSP00000377783.3:p.Pro623GlnfsTer10
ENST00000407433.6:c.1823del	ENSP00000385794.2:p.Pro608GlnfsTer10
ENST00000647936.1:c.1644+2195del	ENSP00000496822.1:n.1644+2195del
ENST00000648381.1:n.2036del
ENST00000648853.1:c.1826del	ENSP00000497262.1:p.Pro609GlnfsTer10
ENST00000650591.1:c.1964del	ENSP00000497376.1:p.Pro655GlnfsTer10
ENST00000394236.7:c.1868del	ENSP00000377783.3:p.Pro623GlnfsTer10
ENST00000407433.5:c.1475del	ENSP00000385794.1:p.Pro492GlnfsTer10
NM_000313.3:c.1868del , LRG_572t1:c.1868del	NP_000304.2:p.Pro623GlnfsTer10
NM_001314077.1:c.1964del , LRG_572t2:c.1964del	NP_001301006.1:p.Pro655GlnfsTer10
NM_000313.4:c.1868del MANE Select	NP_000304.2:p.Pro623GlnfsTer10
NM_001314077.2:c.1964del	NP_001301006.1:p.Pro655GlnfsTer10