Canonical Allele Identifier: CA2639603115
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123571_72123574del , CM000679.2:g.72123571_72123574del GRCh38
NC_000017.10:g.70119712_70119715del , CM000679.1:g.70119712_70119715del GRCh37
NC_000017.9:g.67631307_67631310del NCBI36
NG_012490.1:g.7552_7555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.714_717del MANE Select ENSP00000245479.2:p.Thr239ProfsTer13
ENST00000245479.2:c.714_717del ENSP00000245479.2:p.Thr239ProfsTer13
NM_000346.3:c.714_717del NP_000337.1:p.Thr239ProfsTer13
NM_000346.4:c.714_717del MANE Select NP_000337.1:p.Thr239ProfsTer13