Canonical Allele Identifier: CA2591120737

Gene: PAX9

Linked Data

• gnomAD v3: 14-36663348-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663351_36663352dup , CM000676.2:g.36663351_36663352dup	GRCh38
NC_000014.8:g.37132556_37132557dup , CM000676.1:g.37132556_37132557dup	GRCh37
NC_000014.7:g.36202307_36202308dup	NCBI36
NG_013357.1:g.10784_10785dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.459_460dup MANE Select	ENSP00000355245.6:p.Leu154ArgfsTer?
ENST00000361487.6:c.459_460dup	ENSP00000355245.6:p.Leu154ArgfsTer?
ENST00000402703.6:c.459_460dup	ENSP00000384817.2:p.Leu154ArgfsTer?
ENST00000554201.1:c.-103_-102dup	ENSP00000450434.1:n.-103_-102dup
NM_006194.3:c.459_460dup	NP_006185.1:p.Leu154ArgfsTer?
NM_001372076.1:c.459_460dup MANE Select	NP_001359005.1:p.Leu154ArgfsTer?
NM_006194.4:c.459_460dup	NP_006185.1:p.Leu154ArgfsTer?