Canonical Allele Identifier: CA2580616599
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577031
ClinVar RCV Id: RCV003324109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663197del , CM000676.2:g.36663197del GRCh38
NC_000014.8:g.37132402del , CM000676.1:g.37132402del GRCh37
NC_000014.7:g.36202153del NCBI36
NG_013357.1:g.10630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.305del MANE Select ENSP00000355245.6:p.Ile102ThrfsTer19
ENST00000361487.6:c.305del ENSP00000355245.6:p.Ile102ThrfsTer19
ENST00000402703.6:c.305del ENSP00000384817.2:p.Ile102ThrfsTer19
ENST00000554201.1:c.-257del ENSP00000450434.1:n.-257del
NM_006194.3:c.305del NP_006185.1:p.Ile102ThrfsTer19
NM_001372076.1:c.305del MANE Select NP_001359005.1:p.Ile102ThrfsTer19
NM_006194.4:c.305del NP_006185.1:p.Ile102ThrfsTer19
Search 100 bp 5'
Search 100 bp 3'