Canonical Allele Identifier: CA2695212809
Gene: PAX9 HGNC NCBI
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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
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