Canonical Allele Identifier: CA2539418483
Gene: PTGS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.122381445_122381446del , CM000671.2:g.122381445_122381446del GRCh38
NC_000009.11:g.125143724_125143725del , CM000671.1:g.125143724_125143725del GRCh37
NC_000009.10:g.124183545_124183546del NCBI36
NG_032900.1:g.15496_15497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000362012.7:c.571_572del MANE Select ENSP00000354612.2:p.Gln191ArgfsTer?
ENST00000373698.7:c.244_245del ENSP00000362802.5:p.Gln82ArgfsTer?
ENST00000426608.6:c.313-51_313-50del ENSP00000411606.2:n.313-51_313-50del
ENST00000540753.6:c.496_497del ENSP00000437709.1:p.Gln166ArgfsTer?
ENST00000619306.5:c.427_428del ENSP00000483540.2:p.Gln143ArgfsTer?
ENST00000643576.1:n.665_666del
ENST00000643810.1:c.244_245del ENSP00000494717.1:p.Gln82ArgfsTer?
ENST00000645132.1:n.519+2872_519+2873del
ENST00000647067.1:c.*416_*417del ENSP00000495728.1:n.*416_*417del
ENST00000223423.8:c.571_572del ENSP00000223423.4:p.Gln191ArgfsTer?
ENST00000362012.6:c.571_572del ENSP00000354612.2:p.Gln191ArgfsTer?
ENST00000373698.6:c.244_245del ENSP00000362802.5:p.Gln82ArgfsTer?
ENST00000426608.5:c.304-51_304-50del ENSP00000411606.1:n.304-51_304-50del
ENST00000540753.5:c.496_497del ENSP00000437709.1:p.Gln166ArgfsTer?
ENST00000614910.4:c.427_428del ENSP00000484800.1:p.Gln143ArgfsTer?
ENST00000619306.4:c.664_665del ENSP00000483540.1:p.Gln222ArgfsTer?
NM_000962.3:c.571_572del NP_000953.2:p.Gln191ArgfsTer?
NM_001271164.1:c.427_428del NP_001258093.1:p.Gln143ArgfsTer?
NM_001271165.1:c.244_245del NP_001258094.1:p.Gln82ArgfsTer?
NM_001271166.1:c.244_245del NP_001258095.1:p.Gln82ArgfsTer?
NM_001271367.1:c.244_245del NP_001258296.1:p.Gln82ArgfsTer?
NM_001271368.1:c.496_497del NP_001258297.1:p.Gln166ArgfsTer?
NM_080591.2:c.571_572del NP_542158.1:p.Gln191ArgfsTer?
XM_005252105.2:c.496_497del XP_005252162.1:p.Gln166ArgfsTer?
XM_011518875.1:c.496_497del XP_011517177.1:p.Gln166ArgfsTer?
XM_011518876.1:c.244_245del XP_011517178.1:p.Gln82ArgfsTer?
XM_005252105.3:c.496_497del XP_005252162.1:p.Gln166ArgfsTer?
XM_011518875.2:c.496_497del XP_011517177.1:p.Gln166ArgfsTer?
XM_011518876.2:c.244_245del XP_011517178.1:p.Gln82ArgfsTer?
XM_024447614.1:c.244_245del XP_024303382.1:p.Gln82ArgfsTer?
XM_024447615.1:c.244_245del XP_024303383.1:p.Gln82ArgfsTer?
NM_000962.4:c.571_572del MANE Select NP_000953.2:p.Gln191ArgfsTer?
NM_001271164.2:c.427_428del NP_001258093.1:p.Gln143ArgfsTer?
NM_001271165.2:c.244_245del NP_001258094.1:p.Gln82ArgfsTer?
NM_001271166.2:c.244_245del NP_001258095.1:p.Gln82ArgfsTer?
NM_001271367.2:c.244_245del NP_001258296.1:p.Gln82ArgfsTer?
NM_001271368.2:c.496_497del NP_001258297.1:p.Gln166ArgfsTer?
NM_080591.3:c.571_572del NP_542158.1:p.Gln191ArgfsTer?