Canonical Allele Identifier: CA645598925
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM1385635
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123729_72123732dup , CM000679.2:g.72123729_72123732dup GRCh38
NC_000017.10:g.70119870_70119873dup , CM000679.1:g.70119870_70119873dup GRCh37
NC_000017.9:g.67631465_67631468dup NCBI36
NG_012490.1:g.7710_7713dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.872_875dup MANE Select ENSP00000245479.2:p.Glu293GlnfsTer4
ENST00000245479.2:c.872_875dup ENSP00000245479.2:p.Glu293GlnfsTer4
NM_000346.3:c.872_875dup NP_000337.1:p.Glu293GlnfsTer4
NM_000346.4:c.872_875dup MANE Select NP_000337.1:p.Glu293GlnfsTer4
Search 100 bp 5'
Search 100 bp 3'