Canonical Allele Identifier: CA2695212818

Gene: PAX9

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663242_36663245dup , CM000676.2:g.36663242_36663245dup	GRCh38
NC_000014.8:g.37132447_37132450dup , CM000676.1:g.37132447_37132450dup	GRCh37
NC_000014.7:g.36202198_36202201dup	NCBI36
NG_013357.1:g.10675_10678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.350_353dup MANE Select	ENSP00000355245.6:p.Ser119AlafsTer?
ENST00000361487.6:c.350_353dup	ENSP00000355245.6:p.Ser119AlafsTer?
ENST00000402703.6:c.350_353dup	ENSP00000384817.2:p.Ser119AlafsTer?
ENST00000554201.1:c.-212_-209dup	ENSP00000450434.1:n.-212_-209dup
NM_006194.3:c.350_353dup	NP_006185.1:p.Ser119AlafsTer?
NM_001372076.1:c.350_353dup MANE Select	NP_001359005.1:p.Ser119AlafsTer?
NM_006194.4:c.350_353dup	NP_006185.1:p.Ser119AlafsTer?