Canonical Allele Identifier: CA2624603226
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663154-C-CAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663154_36663155insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT , CM000676.2:g.36663154_36663155insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT GRCh38
NC_000014.8:g.37132359_37132360insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT , CM000676.1:g.37132359_37132360insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT GRCh37
NC_000014.7:g.36202110_36202111insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT NCBI36
NG_013357.1:g.10587_10588insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT MANE Select ENSP00000355245.6:p.Arg88GlnfsTer13
ENST00000361487.6:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT ENSP00000355245.6:p.Arg88GlnfsTer13
ENST00000402703.6:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT ENSP00000384817.2:p.Arg88GlnfsTer13
ENST00000554201.1:c.-300_-299insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT ENSP00000450434.1:n.-300_-299insAAGTGCCACCACATTGGCACAATTATCTT...
NM_006194.3:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT NP_006185.1:p.Arg88GlnfsTer13
NM_001372076.1:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT MANE Select NP_001359005.1:p.Arg88GlnfsTer13
NM_006194.4:c.262_263insAAGTGCCACCACATTGGCACAATTATCTTTTTAAGTAATTAAAGCAGGGCTCTGATTTCTCATCTTCTTGTTTTCTGACTGCAAGTTTACAAGAGCCCAGTTTTGTCTTATTT NP_006185.1:p.Arg88GlnfsTer13
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