Canonical Allele Identifier: CA2695212813
Gene: PAX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663122_36663134del , CM000676.2:g.36663122_36663134del GRCh38
NC_000014.8:g.37132327_37132339del , CM000676.1:g.37132327_37132339del GRCh37
NC_000014.7:g.36202078_36202090del NCBI36
NG_013357.1:g.10555_10567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.230_242del MANE Select ENSP00000355245.6:p.Arg77ProfsTer4
ENST00000555639.2:c.230_242del ENSP00000501203.1:p.Arg77ProfsTer?
ENST00000361487.6:c.230_242del ENSP00000355245.6:p.Arg77ProfsTer4
ENST00000402703.6:c.230_242del ENSP00000384817.2:p.Arg77ProfsTer4
ENST00000554201.1:c.-332_-320del ENSP00000450434.1:n.-332_-320del
ENST00000555639.1:n.532_544del
NM_006194.3:c.230_242del NP_006185.1:p.Arg77ProfsTer4
NM_001372076.1:c.230_242del MANE Select NP_001359005.1:p.Arg77ProfsTer4
NM_006194.4:c.230_242del NP_006185.1:p.Arg77ProfsTer4
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