Canonical Allele Identifier: CA2639603158
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123904-CCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123906_72123989del , CM000679.2:g.72123906_72123989del GRCh38
NC_000017.10:g.70120047_70120130del , CM000679.1:g.70120047_70120130del GRCh37
NC_000017.9:g.67631642_67631725del NCBI36
NG_012490.1:g.7887_7970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1049_1132del MANE Select ENSP00000245479.2:p.Pro350_Pro377del
ENST00000245479.2:c.1049_1132del ENSP00000245479.2:p.Pro350_Pro377del
NM_000346.3:c.1049_1132del NP_000337.1:p.Pro350_Pro377del
NM_000346.4:c.1049_1132del MANE Select NP_000337.1:p.Pro350_Pro377del
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