Canonical Allele Identifier: CA2624603232
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663207-CCTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663211_36663213del , CM000676.2:g.36663211_36663213del GRCh38
NC_000014.8:g.37132416_37132418del , CM000676.1:g.37132416_37132418del GRCh37
NC_000014.7:g.36202167_36202169del NCBI36
NG_013357.1:g.10644_10646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.319_321del MANE Select ENSP00000355245.6:p.Leu107del
ENST00000361487.6:c.319_321del ENSP00000355245.6:p.Leu107del
ENST00000402703.6:c.319_321del ENSP00000384817.2:p.Leu107del
ENST00000554201.1:c.-243_-241del ENSP00000450434.1:n.-243_-241del
NM_006194.3:c.319_321del NP_006185.1:p.Leu107del
NM_001372076.1:c.319_321del MANE Select NP_001359005.1:p.Leu107del
NM_006194.4:c.319_321del NP_006185.1:p.Leu107del
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