Canonical Allele Identifier: CA2695226898
Gene: SOX9 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123646del , CM000679.2:g.72123646del GRCh38
NC_000017.10:g.70119787del , CM000679.1:g.70119787del GRCh37
NC_000017.9:g.67631382del NCBI36
NG_012490.1:g.7627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.789del MANE Select ENSP00000245479.2:p.Arg264AspfsTer15
ENST00000245479.2:c.789del ENSP00000245479.2:p.Arg264AspfsTer15
NM_000346.3:c.789del NP_000337.1:p.Arg264AspfsTer15
NM_000346.4:c.789del MANE Select NP_000337.1:p.Arg264AspfsTer15
Search 100 bp 5'
Search 100 bp 3'