Canonical Allele Identifier: CA2624603228
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663168-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663169del , CM000676.2:g.36663169del GRCh38
NC_000014.8:g.37132374del , CM000676.1:g.37132374del GRCh37
NC_000014.7:g.36202125del NCBI36
NG_013357.1:g.10602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.277del MANE Select ENSP00000355245.6:p.Arg93GlufsTer28
ENST00000361487.6:c.277del ENSP00000355245.6:p.Arg93GlufsTer28
ENST00000402703.6:c.277del ENSP00000384817.2:p.Arg93GlufsTer28
ENST00000554201.1:c.-285del ENSP00000450434.1:n.-285del
NM_006194.3:c.277del NP_006185.1:p.Arg93GlufsTer28
NM_001372076.1:c.277del MANE Select NP_001359005.1:p.Arg93GlufsTer28
NM_006194.4:c.277del NP_006185.1:p.Arg93GlufsTer28
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