Canonical Allele Identifier: CA2810344896
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122324dup , CM000679.2:g.72122324dup GRCh38
NC_000017.10:g.70118465dup , CM000679.1:g.70118465dup GRCh37
NC_000017.9:g.67630060dup NCBI36
NG_012490.1:g.6305dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-395dup MANE Select ENSP00000245479.2:n.432-395dup
ENST00000245479.2:c.432-395dup ENSP00000245479.2:n.432-395dup
NM_000346.3:c.432-395dup NP_000337.1:n.432-395dup
NM_000346.4:c.432-395dup MANE Select NP_000337.1:n.432-395dup