Canonical Allele Identifier: CA2639603146
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123870-AGCAGCAGGCGCCGCCGCCACCCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123878_72123901del , CM000679.2:g.72123878_72123901del GRCh38
NC_000017.10:g.70120019_70120042del , CM000679.1:g.70120019_70120042del GRCh37
NC_000017.9:g.67631614_67631637del NCBI36
NG_012490.1:g.7859_7882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1021_1044del MANE Select ENSP00000245479.2:p.Ala341_Gln348del
ENST00000245479.2:c.1021_1044del ENSP00000245479.2:p.Ala341_Gln348del
NM_000346.3:c.1021_1044del NP_000337.1:p.Ala341_Gln348del
NM_000346.4:c.1021_1044del MANE Select NP_000337.1:p.Ala341_Gln348del
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Search 100 bp 3'