Canonical Allele Identifier: CA645598913
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM1563677
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123557_72123558dup , CM000679.2:g.72123557_72123558dup GRCh38
NC_000017.10:g.70119698_70119699dup , CM000679.1:g.70119698_70119699dup GRCh37
NC_000017.9:g.67631293_67631294dup NCBI36
NG_012490.1:g.7538_7539dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.700_701dup MANE Select ENSP00000245479.2:p.Pro235HisfsTer19
ENST00000245479.2:c.700_701dup ENSP00000245479.2:p.Pro235HisfsTer19
NM_000346.3:c.700_701dup NP_000337.1:p.Pro235HisfsTer19
NM_000346.4:c.700_701dup MANE Select NP_000337.1:p.Pro235HisfsTer19
Search 100 bp 5'
Search 100 bp 3'