Canonical Allele Identifier: CA645598912
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM5077092
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123544_72123563dup , CM000679.2:g.72123544_72123563dup GRCh38
NC_000017.10:g.70119685_70119704dup , CM000679.1:g.70119685_70119704dup GRCh37
NC_000017.9:g.67631280_67631299dup NCBI36
NG_012490.1:g.7525_7544dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.687_706dup MANE Select ENSP00000245479.2:p.Thr236SerfsTer24
ENST00000245479.2:c.687_706dup ENSP00000245479.2:p.Thr236SerfsTer24
NM_000346.3:c.687_706dup NP_000337.1:p.Thr236SerfsTer24
NM_000346.4:c.687_706dup MANE Select NP_000337.1:p.Thr236SerfsTer24
Search 100 bp 5'
Search 100 bp 3'