Canonical Allele Identifier: CA2580616598
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577030
ClinVar RCV Id: RCV003324108
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663083del , CM000676.2:g.36663083del GRCh38
NC_000014.8:g.37132288del , CM000676.1:g.37132288del GRCh37
NC_000014.7:g.36202039del NCBI36
NG_013357.1:g.10516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.191del MANE Select ENSP00000355245.6:p.Gly64AlafsTer21
ENST00000555639.2:c.191del ENSP00000501203.1:p.Gly64AlafsTer?
ENST00000361487.6:c.191del ENSP00000355245.6:p.Gly64AlafsTer21
ENST00000402703.6:c.191del ENSP00000384817.2:p.Gly64AlafsTer21
ENST00000554201.1:c.-371del ENSP00000450434.1:n.-371del
ENST00000555639.1:n.493del
NM_006194.3:c.191del NP_006185.1:p.Gly64AlafsTer21
NM_001372076.1:c.191del MANE Select NP_001359005.1:p.Gly64AlafsTer21
NM_006194.4:c.191del NP_006185.1:p.Gly64AlafsTer21
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