Canonical Allele Identifier: CA2499222620
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064706
ClinVar RCV Id: RCV001374731
dbSNP Id: rs2139108140
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663135del , CM000676.2:g.36663135del GRCh38
NC_000014.8:g.37132340del , CM000676.1:g.37132340del GRCh37
NC_000014.7:g.36202091del NCBI36
NG_013357.1:g.10568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.243del MANE Select ENSP00000355245.6:p.Thr82ProfsTer3
ENST00000555639.2:c.243del ENSP00000501203.1:p.Thr82ProfsTer?
ENST00000361487.6:c.243del ENSP00000355245.6:p.Thr82ProfsTer3
ENST00000402703.6:c.243del ENSP00000384817.2:p.Thr82ProfsTer3
ENST00000554201.1:c.-319del ENSP00000450434.1:n.-319del
ENST00000555639.1:n.545del
NM_006194.3:c.243del NP_006185.1:p.Thr82ProfsTer3
NM_001372076.1:c.243del MANE Select NP_001359005.1:p.Thr82ProfsTer3
NM_006194.4:c.243del NP_006185.1:p.Thr82ProfsTer3
Search 100 bp 5'
Search 100 bp 3'