Canonical Allele Identifier: CA590503413

Gene: PTGS1

Linked Data

• dbSNP Id: rs1373654613
• gnomAD v2: 9-125133513-T-TC
• gnomAD v4: 9-122371234-T-TC
• MyVariant Identifiers: chr9:g.125133513_125133514insC (hg19) ; chr9:g.122371234_122371235insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.122371238dup , CM000671.2:g.122371238dup	GRCh38
NC_000009.11:g.125133517dup , CM000671.1:g.125133517dup	GRCh37
NC_000009.10:g.124173338dup	NCBI36
NG_032900.1:g.5289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362012.7:c.60dup MANE Select	ENSP00000354612.2:p.Val21ArgfsTer?
ENST00000426608.6:c.60dup	ENSP00000411606.2:p.Val21ArgfsTer?
ENST00000540753.6:c.-238dup	ENSP00000437709.1:n.-238dup
ENST00000619306.5:c.60dup	ENSP00000483540.2:p.Val21ArgfsTer?
ENST00000643576.1:n.154dup
ENST00000643810.1:c.-268dup	ENSP00000494717.1:n.-268dup
ENST00000645132.1:n.227dup
ENST00000647067.1:c.60dup	ENSP00000495728.1:p.Val21ArgfsTer?
ENST00000223423.8:c.60dup	ENSP00000223423.4:p.Val21ArgfsTer?
ENST00000362012.6:c.60dup	ENSP00000354612.2:p.Val21ArgfsTer?
ENST00000426608.5:c.51dup	ENSP00000411606.1:p.Val18ArgfsTer?
ENST00000540753.5:c.-238dup	ENSP00000437709.1:n.-238dup
ENST00000614910.4:c.60dup	ENSP00000484800.1:p.Val21ArgfsTer?
ENST00000619306.4:c.153dup	ENSP00000483540.1:p.Val52ArgfsTer?
NM_000962.3:c.60dup	NP_000953.2:p.Val21ArgfsTer?
NM_001271164.1:c.60dup	NP_001258093.1:p.Val21ArgfsTer?
NM_001271166.1:c.-268dup	NP_001258095.1:n.-268dup
NM_001271367.1:c.-239dup	NP_001258296.1:n.-239dup
NM_001271368.1:c.-238dup	NP_001258297.1:n.-238dup
NM_080591.2:c.60dup	NP_542158.1:p.Val21ArgfsTer?
XM_005252105.2:c.-238dup	XP_005252162.1:n.-238dup
XM_011518875.1:c.-238dup	XP_011517177.1:n.-238dup
XM_011518876.1:c.-4100dup	XP_011517178.1:n.-4100dup
XM_005252105.3:c.-238dup	XP_005252162.1:n.-238dup
XM_011518875.2:c.-238dup	XP_011517177.1:n.-238dup
XM_011518876.2:c.-4100dup	XP_011517178.1:n.-4100dup
XM_024447614.1:c.-268dup	XP_024303382.1:n.-268dup
XM_024447615.1:c.-268dup	XP_024303383.1:n.-268dup
NM_000962.4:c.60dup MANE Select	NP_000953.2:p.Val21ArgfsTer?
NM_001271164.2:c.60dup	NP_001258093.1:p.Val21ArgfsTer?
NM_001271166.2:c.-268dup	NP_001258095.1:n.-268dup
NM_001271367.2:c.-239dup	NP_001258296.1:n.-239dup
NM_001271368.2:c.-238dup	NP_001258297.1:n.-238dup
NM_080591.3:c.60dup	NP_542158.1:p.Val21ArgfsTer?