Canonical Allele Identifier: CA501432937
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM1266514
MyVariant Identifiers: chr17:g.70120292_70120293insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124151dup , CM000679.2:g.72124151dup GRCh38
NC_000017.10:g.70120292dup , CM000679.1:g.70120292dup GRCh37
NC_000017.9:g.67631887dup NCBI36
NG_012490.1:g.8132dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1294dup MANE Select ENSP00000245479.2:p.Tyr432LeufsTer?
ENST00000245479.2:c.1294dup ENSP00000245479.2:p.Tyr432LeufsTer?
NM_000346.3:c.1294dup NP_000337.1:p.Tyr432LeufsTer?
NM_000346.4:c.1294dup MANE Select NP_000337.1:p.Tyr432LeufsTer?
Search 100 bp 5'
Search 100 bp 3'