Canonical Allele Identifier: CA16042891
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 373036
ClinVar RCV Id: RCV000413232
dbSNP Id: rs1057518159

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663217_36663223dup , CM000676.2:g.36663217_36663223dup GRCh38
NC_000014.8:g.37132422_37132428dup , CM000676.1:g.37132422_37132428dup GRCh37
NC_000014.7:g.36202173_36202179dup NCBI36
NG_013357.1:g.10650_10656dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361487.7:c.325_331dup MANE Select ENSP00000355245.6:p.Val111GlyfsTer?
ENST00000361487.6:c.325_331dup ENSP00000355245.6:p.Val111GlyfsTer?
ENST00000402703.6:c.325_331dup ENSP00000384817.2:p.Val111GlyfsTer?
ENST00000554201.1:c.-237_-231dup ENSP00000450434.1:n.-237_-231dup
NM_006194.3:c.325_331dup NP_006185.1:p.Val111GlyfsTer?
NM_001372076.1:c.325_331dup MANE Select NP_001359005.1:p.Val111GlyfsTer?
NM_006194.4:c.325_331dup NP_006185.1:p.Val111GlyfsTer?