Canonical Allele Identifier: CA2273926564
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123955_72123957delinsCCC , CM000679.2:g.72123955_72123957delinsCCC GRCh38
NC_000017.10:g.70120096_70120098delinsCCC , CM000679.1:g.70120096_70120098delinsCCC GRCh37
NC_000017.9:g.67631691_67631693delinsCCC NCBI36
NG_012490.1:g.7936_7938delinsCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1098_1100delinsCCC MANE Select ENSP00000245479.2:p.Pro366=
ENST00000245479.2:c.1098_1100delinsCCC ENSP00000245479.2:p.Pro366=
NM_000346.3:c.1098_1100delinsCCC NP_000337.1:p.Pro366=
NM_000346.4:c.1098_1100delinsCCC MANE Select NP_000337.1:p.Pro366=
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