Canonical Allele Identifier: CA2580088073
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094636
ClinVar RCV Id: RCV003010349
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663177del , CM000676.2:g.36663177del GRCh38
NC_000014.8:g.37132382del , CM000676.1:g.37132382del GRCh37
NC_000014.7:g.36202133del NCBI36
NG_013357.1:g.10610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.285del MANE Select ENSP00000355245.6:p.Gly96AlafsTer25
ENST00000361487.6:c.285del ENSP00000355245.6:p.Gly96AlafsTer25
ENST00000402703.6:c.285del ENSP00000384817.2:p.Gly96AlafsTer25
ENST00000554201.1:c.-277del ENSP00000450434.1:n.-277del
NM_006194.3:c.285del NP_006185.1:p.Gly96AlafsTer25
NM_001372076.1:c.285del MANE Select NP_001359005.1:p.Gly96AlafsTer25
NM_006194.4:c.285del NP_006185.1:p.Gly96AlafsTer25
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