Canonical Allele Identifier: CA2801203473

Gene: PAX9

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663382_36663383insAACCCAAACACACCCAACACA , CM000676.2:g.36663382_36663383insAACCCAAACACACCCAACACA	GRCh38
NC_000014.8:g.37132587_37132588insAACCCAAACACACCCAACACA , CM000676.1:g.37132587_37132588insAACCCAAACACACCCAACACA	GRCh37
NC_000014.7:g.36202338_36202339insAACCCAAACACACCCAACACA	NCBI36
NG_013357.1:g.10815_10816insAACCCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.490_491insAACCCAAACACACCCAACACA MANE Select	ENSP00000355245.6:p.Pro163_Ser164insLysProLysHisThrGlnHis
ENST00000361487.6:c.490_491insAACCCAAACACACCCAACACA	ENSP00000355245.6:p.Pro163_Ser164insLysProLysHisThrGlnHis
ENST00000402703.6:c.490_491insAACCCAAACACACCCAACACA	ENSP00000384817.2:p.Pro163_Ser164insLysProLysHisThrGlnHis
ENST00000554201.1:c.-72_-71insAACCCAAACACACCCAACACA	ENSP00000450434.1:n.-72_-71insAACCCAAACACACCCAACACA
NM_006194.3:c.490_491insAACCCAAACACACCCAACACA	NP_006185.1:p.Pro163_Ser164insLysProLysHisThrGlnHis
NM_001372076.1:c.490_491insAACCCAAACACACCCAACACA MANE Select	NP_001359005.1:p.Pro163_Ser164insLysProLysHisThrGlnHis
NM_006194.4:c.490_491insAACCCAAACACACCCAACACA	NP_006185.1:p.Pro163_Ser164insLysProLysHisThrGlnHis