Canonical Allele Identifier: CA2273926511
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908193725
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123907_72123924del , CM000679.2:g.72123907_72123924del GRCh38
NC_000017.10:g.70120048_70120065del , CM000679.1:g.70120048_70120065del GRCh37
NC_000017.9:g.67631643_67631660del NCBI36
NG_012490.1:g.7888_7905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1050_1067del MANE Select ENSP00000245479.2:p.Gln351_Pro356del
ENST00000245479.2:c.1050_1067del ENSP00000245479.2:p.Gln351_Pro356del
NM_000346.3:c.1050_1067del NP_000337.1:p.Gln351_Pro356del
NM_000346.4:c.1050_1067del MANE Select NP_000337.1:p.Gln351_Pro356del
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