Canonical Allele Identifier: CA2695212820

Gene: PAX9

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663386_36663405del , CM000676.2:g.36663386_36663405del	GRCh38
NC_000014.8:g.37132591_37132610del , CM000676.1:g.37132591_37132610del	GRCh37
NC_000014.7:g.36202342_36202361del	NCBI36
NG_013357.1:g.10819_10838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.494_513del MANE Select	ENSP00000355245.6:p.Pro165GlnfsTer?
ENST00000361487.6:c.494_513del	ENSP00000355245.6:p.Pro165GlnfsTer?
ENST00000402703.6:c.494_513del	ENSP00000384817.2:p.Pro165GlnfsTer?
ENST00000554201.1:c.-68_-49del	ENSP00000450434.1:n.-68_-49del
NM_006194.3:c.494_513del	NP_006185.1:p.Pro165GlnfsTer?
NM_001372076.1:c.494_513del MANE Select	NP_001359005.1:p.Pro165GlnfsTer?
NM_006194.4:c.494_513del	NP_006185.1:p.Pro165GlnfsTer?