Canonical Allele Identifier: CA2695212814
Gene: PAX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663127_36663128dup , CM000676.2:g.36663127_36663128dup GRCh38
NC_000014.8:g.37132332_37132333dup , CM000676.1:g.37132332_37132333dup GRCh37
NC_000014.7:g.36202083_36202084dup NCBI36
NG_013357.1:g.10560_10561dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.235_236dup MANE Select ENSP00000355245.6:p.Thr80LeufsTer6
ENST00000555639.2:c.235_236dup ENSP00000501203.1:p.Thr80LeufsTer?
ENST00000361487.6:c.235_236dup ENSP00000355245.6:p.Thr80LeufsTer6
ENST00000402703.6:c.235_236dup ENSP00000384817.2:p.Thr80LeufsTer6
ENST00000554201.1:c.-327_-326dup ENSP00000450434.1:n.-327_-326dup
ENST00000555639.1:n.537_538dup
NM_006194.3:c.235_236dup NP_006185.1:p.Thr80LeufsTer6
NM_001372076.1:c.235_236dup MANE Select NP_001359005.1:p.Thr80LeufsTer6
NM_006194.4:c.235_236dup NP_006185.1:p.Thr80LeufsTer6
Search 100 bp 5'
Search 100 bp 3'