Canonical Allele Identifier: CA2510825786
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122326del , CM000679.2:g.72122326del GRCh38
NC_000017.10:g.70118467del , CM000679.1:g.70118467del GRCh37
NC_000017.9:g.67630062del NCBI36
NG_012490.1:g.6307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-393del MANE Select ENSP00000245479.2:n.432-393del
ENST00000245479.2:c.432-393del ENSP00000245479.2:n.432-393del
NM_000346.3:c.432-393del NP_000337.1:n.432-393del
NM_000346.4:c.432-393del MANE Select NP_000337.1:n.432-393del