Canonical Allele Identifier: CA2129502550
Gene: PAX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663227_36663236delinsGCGACAAGTA , CM000676.2:g.36663227_36663236delinsGCGACAAGTA GRCh38
NC_000014.8:g.37132432_37132441delinsGCGACAAGTA , CM000676.1:g.37132432_37132441delinsGCGACAAGTA GRCh37
NC_000014.7:g.36202183_36202192delinsGCGACAAGTA NCBI36
NG_013357.1:g.10660_10669delinsGCGACAAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.335_344delinsGCGACAAGTA MANE Select ENSP00000355245.6:p.Cys112=
ENST00000361487.6:c.335_344delinsGCGACAAGTA ENSP00000355245.6:p.Cys112=
ENST00000402703.6:c.335_344delinsGCGACAAGTA ENSP00000384817.2:p.Cys112=
ENST00000554201.1:c.-227_-218delinsGCGACAAGTA ENSP00000450434.1:n.-227_-218delinsGCGACAAGTA
NM_006194.3:c.335_344delinsGCGACAAGTA NP_006185.1:p.Cys112=
NM_001372076.1:c.335_344delinsGCGACAAGTA MANE Select NP_001359005.1:p.Cys112=
NM_006194.4:c.335_344delinsGCGACAAGTA NP_006185.1:p.Cys112=
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