Canonical Allele Identifier: CA2129502419

Gene: PAX9

Linked Data

• ClinVar Variation Id: 13767
• ClinVar RCV Id: RCV000014777
• dbSNP Id: rs1881345182

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663110dup , CM000676.2:g.36663110dup	GRCh38
NC_000014.8:g.37132315dup , CM000676.1:g.37132315dup	GRCh37
NC_000014.7:g.36202066dup	NCBI36
NG_013357.1:g.10543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.218dup MANE Select	ENSP00000355245.6:p.Ser74GlnfsTer?
ENST00000555639.2:c.218dup	ENSP00000501203.1:p.Ser74GlnfsTer?
ENST00000361487.6:c.218dup	ENSP00000355245.6:p.Ser74GlnfsTer?
ENST00000402703.6:c.218dup	ENSP00000384817.2:p.Ser74GlnfsTer?
ENST00000554201.1:c.-344dup	ENSP00000450434.1:n.-344dup
ENST00000555639.1:n.520dup
NM_006194.3:c.218dup	NP_006185.1:p.Ser74GlnfsTer?
NM_001372076.1:c.218dup MANE Select	NP_001359005.1:p.Ser74GlnfsTer?
NM_006194.4:c.218dup	NP_006185.1:p.Ser74GlnfsTer?