Canonical Allele Identifier: CA2759522132
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123562dup , CM000679.2:g.72123562dup GRCh38
NC_000017.10:g.70119703dup , CM000679.1:g.70119703dup GRCh37
NC_000017.9:g.67631298dup NCBI36
NG_012490.1:g.7543dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.705dup MANE Select ENSP00000245479.2:p.Thr236AspfsTer16
ENST00000245479.2:c.705dup ENSP00000245479.2:p.Thr236AspfsTer16
NM_000346.3:c.705dup NP_000337.1:p.Thr236AspfsTer16
NM_000346.4:c.705dup MANE Select NP_000337.1:p.Thr236AspfsTer16
Search 100 bp 5'
Search 100 bp 3'