Canonical Allele Identifier: CA2580088074
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693560
ClinVar RCV Id: RCV002260955
dbSNP Id: rs2139108320
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663246del , CM000676.2:g.36663246del GRCh38
NC_000014.8:g.37132451del , CM000676.1:g.37132451del GRCh37
NC_000014.7:g.36202202del NCBI36
NG_013357.1:g.10679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.354del MANE Select ENSP00000355245.6:p.Ser119ProfsTer2
ENST00000361487.6:c.354del ENSP00000355245.6:p.Ser119ProfsTer2
ENST00000402703.6:c.354del ENSP00000384817.2:p.Ser119ProfsTer2
ENST00000554201.1:c.-208del ENSP00000450434.1:n.-208del
NM_006194.3:c.354del NP_006185.1:p.Ser119ProfsTer2
NM_001372076.1:c.354del MANE Select NP_001359005.1:p.Ser119ProfsTer2
NM_006194.4:c.354del NP_006185.1:p.Ser119ProfsTer2
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