Canonical Allele Identifier: CA645598907
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM4385961
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122878_72122879insTC , CM000679.2:g.72122878_72122879insTC GRCh38
NC_000017.10:g.70119019_70119020insTC , CM000679.1:g.70119019_70119020insTC GRCh37
NC_000017.9:g.67630614_67630615insTC NCBI36
NG_012490.1:g.6859_6860insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.591_592insTC MANE Select ENSP00000245479.2:p.Ile198SerfsTer22
ENST00000245479.2:c.591_592insTC ENSP00000245479.2:p.Ile198SerfsTer22
NM_000346.3:c.591_592insTC NP_000337.1:p.Ile198SerfsTer22
NM_000346.4:c.591_592insTC MANE Select NP_000337.1:p.Ile198SerfsTer22
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