Canonical Allele Identifier: CA1128881689

Gene: PTGS1

Linked Data

• gnomAD v3: 9-122381454-A-AAAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGT
• gnomAD v4: 9-122381454-A-AAAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.122381455_122381456insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA , CM000671.2:g.122381455_122381456insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	GRCh38
NC_000009.11:g.125143734_125143735insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA , CM000671.1:g.125143734_125143735insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	GRCh37
NC_000009.10:g.124183555_124183556insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NCBI36
NG_032900.1:g.15506_15507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362012.7:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA MANE Select	ENSP00000354612.2:p.Asn194LysfsTer?
ENST00000373698.7:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000362802.5:p.Asn85LysfsTer?
ENST00000426608.6:c.313-41_313-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000411606.2:n.313-41_313-40insAATGCATACAAATAATAATGAACTA...
ENST00000540753.6:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000437709.1:p.Asn169LysfsTer?
ENST00000619306.5:c.437_438insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000483540.2:p.Asn146LysfsTer?
ENST00000643576.1:n.675_676insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA
ENST00000643810.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000494717.1:p.Asn85LysfsTer?
ENST00000645132.1:n.519+2882_519+2883insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA
ENST00000647067.1:c.*426_*427insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000495728.1:n.*426_*427insAATGCATACAAATAATAATGAACTAGTTA...
ENST00000223423.8:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000223423.4:p.Asn194LysfsTer?
ENST00000362012.6:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000354612.2:p.Asn194LysfsTer?
ENST00000373698.6:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000362802.5:p.Asn85LysfsTer?
ENST00000426608.5:c.304-41_304-40insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000411606.1:n.304-41_304-40insAATGCATACAAATAATAATGAACTA...
ENST00000540753.5:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000437709.1:p.Asn169LysfsTer?
ENST00000614910.4:c.437_438insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000484800.1:p.Asn146LysfsTer?
ENST00000619306.4:c.674_675insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	ENSP00000483540.1:p.Asn225LysfsTer?
NM_000962.3:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_000953.2:p.Asn194LysfsTer?
NM_001271164.1:c.437_438insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258093.1:p.Asn146LysfsTer?
NM_001271165.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258094.1:p.Asn85LysfsTer?
NM_001271166.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258095.1:p.Asn85LysfsTer?
NM_001271367.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258296.1:p.Asn85LysfsTer?
NM_001271368.1:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258297.1:p.Asn169LysfsTer?
NM_080591.2:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_542158.1:p.Asn194LysfsTer?
XM_005252105.2:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_005252162.1:p.Asn169LysfsTer?
XM_011518875.1:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_011517177.1:p.Asn169LysfsTer?
XM_011518876.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_011517178.1:p.Asn85LysfsTer?
XM_005252105.3:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_005252162.1:p.Asn169LysfsTer?
XM_011518875.2:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_011517177.1:p.Asn169LysfsTer?
XM_011518876.2:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_011517178.1:p.Asn85LysfsTer?
XM_024447614.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_024303382.1:p.Asn85LysfsTer?
XM_024447615.1:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	XP_024303383.1:p.Asn85LysfsTer?
NM_000962.4:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA MANE Select	NP_000953.2:p.Asn194LysfsTer?
NM_001271164.2:c.437_438insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258093.1:p.Asn146LysfsTer?
NM_001271165.2:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258094.1:p.Asn85LysfsTer?
NM_001271166.2:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258095.1:p.Asn85LysfsTer?
NM_001271367.2:c.254_255insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258296.1:p.Asn85LysfsTer?
NM_001271368.2:c.506_507insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_001258297.1:p.Asn169LysfsTer?
NM_080591.3:c.581_582insAATGCATACAAATAATAATGAACTAGTTAAGTGCTTTCTAAGTA	NP_542158.1:p.Asn194LysfsTer?