Canonical Allele Identifier: CA2801203471
Gene: PAX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663375_36663376del , CM000676.2:g.36663375_36663376del GRCh38
NC_000014.8:g.37132580_37132581del , CM000676.1:g.37132580_37132581del GRCh37
NC_000014.7:g.36202331_36202332del NCBI36
NG_013357.1:g.10808_10809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.483_484del MANE Select ENSP00000355245.6:p.Tyr162ProfsTer?
ENST00000361487.6:c.483_484del ENSP00000355245.6:p.Tyr162ProfsTer?
ENST00000402703.6:c.483_484del ENSP00000384817.2:p.Tyr162ProfsTer?
ENST00000554201.1:c.-79_-78del ENSP00000450434.1:n.-79_-78del
NM_006194.3:c.483_484del NP_006185.1:p.Tyr162ProfsTer?
NM_001372076.1:c.483_484del MANE Select NP_001359005.1:p.Tyr162ProfsTer?
NM_006194.4:c.483_484del NP_006185.1:p.Tyr162ProfsTer?