Canonical Allele Identifier: CA2695212806
Gene: PAX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36662951del , CM000676.2:g.36662951del GRCh38
NC_000014.8:g.37132156del , CM000676.1:g.37132156del GRCh37
NC_000014.7:g.36201907del NCBI36
NG_013357.1:g.10384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.59del MANE Select ENSP00000355245.6:p.Pro20ArgfsTer?
ENST00000555639.2:c.59del ENSP00000501203.1:p.Pro20ArgfsTer?
ENST00000361487.6:c.59del ENSP00000355245.6:p.Pro20ArgfsTer?
ENST00000402703.6:c.59del ENSP00000384817.2:p.Pro20ArgfsTer?
ENST00000554201.1:c.-503del ENSP00000450434.1:n.-503del
ENST00000555639.1:n.361del
NM_006194.3:c.59del NP_006185.1:p.Pro20ArgfsTer?
NM_001372076.1:c.59del MANE Select NP_001359005.1:p.Pro20ArgfsTer?
NM_006194.4:c.59del NP_006185.1:p.Pro20ArgfsTer?