Canonical Allele Identifier: CA2695212809

Gene: PAX9

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663020_36663021delinsAA , CM000676.2:g.36663020_36663021delinsAA	GRCh38
NC_000014.8:g.37132225_37132226delinsAA , CM000676.1:g.37132225_37132226delinsAA	GRCh37
NC_000014.7:g.36201976_36201977delinsAA	NCBI36
NG_013357.1:g.10453_10454delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.128_129delinsAA MANE Select	ENSP00000355245.6:p.Ser43Lys
ENST00000555639.2:c.128_129delinsAA	ENSP00000501203.1:p.Ser43Lys
ENST00000361487.6:c.128_129delinsAA	ENSP00000355245.6:p.Ser43Lys
ENST00000402703.6:c.128_129delinsAA	ENSP00000384817.2:p.Ser43Lys
ENST00000554201.1:c.-434_-433delinsAA	ENSP00000450434.1:n.-434_-433delinsAA
ENST00000555639.1:n.430_431delinsAA
NM_006194.3:c.128_129delinsAA	NP_006185.1:p.Ser43Lys
NM_001372076.1:c.128_129delinsAA MANE Select	NP_001359005.1:p.Ser43Lys
NM_006194.4:c.128_129delinsAA	NP_006185.1:p.Ser43Lys