Canonical Allele Identifier: CA2576374513
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123619_72123627del , CM000679.2:g.72123619_72123627del GRCh38
NC_000017.10:g.70119760_70119768del , CM000679.1:g.70119760_70119768del GRCh37
NC_000017.9:g.67631355_67631363del NCBI36
NG_012490.1:g.7600_7608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.762_770del MANE Select ENSP00000245479.2:p.Glu255_Arg257del
ENST00000245479.2:c.762_770del ENSP00000245479.2:p.Glu255_Arg257del
NM_000346.3:c.762_770del NP_000337.1:p.Glu255_Arg257del
NM_000346.4:c.762_770del MANE Select NP_000337.1:p.Glu255_Arg257del
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Search 100 bp 3'