Canonical Allele Identifier: CA2129503289
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1881379424

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663666_36663686del , CM000676.2:g.36663666_36663686del GRCh38
NC_000014.8:g.37132871_37132891del , CM000676.1:g.37132871_37132891del GRCh37
NC_000014.7:g.36202622_36202642del NCBI36
NG_013357.1:g.11099_11119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.631+143_631+163del MANE Select ENSP00000355245.6:n.631+143_631+163del
ENST00000361487.6:c.631+143_631+163del ENSP00000355245.6:n.631+143_631+163del
ENST00000402703.6:c.631+143_631+163del ENSP00000384817.2:n.631+143_631+163del
ENST00000554201.1:c.70+143_70+163del ENSP00000450434.1:n.70+143_70+163del
NM_006194.3:c.631+143_631+163del NP_006185.1:n.631+143_631+163del
NM_001372076.1:c.631+143_631+163del MANE Select NP_001359005.1:n.631+143_631+163del
NM_006194.4:c.631+143_631+163del NP_006185.1:n.631+143_631+163del