Canonical Allele Identifier: CA2273926615
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124035_72124041delinsAGCGAAC , CM000679.2:g.72124035_72124041delinsAGCGAAC GRCh38
NC_000017.10:g.70120176_70120182delinsAGCGAAC , CM000679.1:g.70120176_70120182delinsAGCGAAC GRCh37
NC_000017.9:g.67631771_67631777delinsAGCGAAC NCBI36
NG_012490.1:g.8016_8022delinsAGCGAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1178_1184delinsAGCGAAC MANE Select ENSP00000245479.2:p.Gln393=
ENST00000245479.2:c.1178_1184delinsAGCGAAC ENSP00000245479.2:p.Gln393=
NM_000346.3:c.1178_1184delinsAGCGAAC NP_000337.1:p.Gln393=
NM_000346.4:c.1178_1184delinsAGCGAAC MANE Select NP_000337.1:p.Gln393=
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