Canonical Allele Identifier: CA2801203472
Gene: PAX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663380_36663381insAACA , CM000676.2:g.36663380_36663381insAACA GRCh38
NC_000014.8:g.37132585_37132586insAACA , CM000676.1:g.37132585_37132586insAACA GRCh37
NC_000014.7:g.36202336_36202337insAACA NCBI36
NG_013357.1:g.10813_10814insAACA

Transcript Alleles

HGVS Amino-acid change
ENST00000361487.7:c.488_489insAACA MANE Select ENSP00000355245.6:p.Ser164ThrfsTer?
ENST00000361487.6:c.488_489insAACA ENSP00000355245.6:p.Ser164ThrfsTer?
ENST00000402703.6:c.488_489insAACA ENSP00000384817.2:p.Ser164ThrfsTer?
ENST00000554201.1:c.-74_-73insAACA ENSP00000450434.1:n.-74_-73insAACA
NM_006194.3:c.488_489insAACA NP_006185.1:p.Ser164ThrfsTer?
NM_001372076.1:c.488_489insAACA MANE Select NP_001359005.1:p.Ser164ThrfsTer?
NM_006194.4:c.488_489insAACA NP_006185.1:p.Ser164ThrfsTer?