Canonical Allele Identifier: CA2580616597

Gene: PAX9

Linked Data

• ClinVar Variation Id: 2577025
• ClinVar RCV Id: RCV003324103

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663025_36663028del , CM000676.2:g.36663025_36663028del	GRCh38
NC_000014.8:g.37132230_37132233del , CM000676.1:g.37132230_37132233del	GRCh37
NC_000014.7:g.36201981_36201984del	NCBI36
NG_013357.1:g.10458_10461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.133_136del MANE Select	ENSP00000355245.6:p.Gln45TyrfsTer?
ENST00000555639.2:c.133_136del	ENSP00000501203.1:p.Gln45TyrfsTer?
ENST00000361487.6:c.133_136del	ENSP00000355245.6:p.Gln45TyrfsTer?
ENST00000402703.6:c.133_136del	ENSP00000384817.2:p.Gln45TyrfsTer?
ENST00000554201.1:c.-429_-426del	ENSP00000450434.1:n.-429_-426del
ENST00000555639.1:n.435_438del
NM_006194.3:c.133_136del	NP_006185.1:p.Gln45TyrfsTer?
NM_001372076.1:c.133_136del MANE Select	NP_001359005.1:p.Gln45TyrfsTer?
NM_006194.4:c.133_136del	NP_006185.1:p.Gln45TyrfsTer?