Canonical Allele Identifier: CA2639603157
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123897-AGCAGCCCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123898_72123906del , CM000679.2:g.72123898_72123906del GRCh38
NC_000017.10:g.70120039_70120047del , CM000679.1:g.70120039_70120047del GRCh37
NC_000017.9:g.67631634_67631642del NCBI36
NG_012490.1:g.7879_7887del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1041_1049del MANE Select ENSP00000245479.2:p.Gln348_Pro350del
ENST00000245479.2:c.1041_1049del ENSP00000245479.2:p.Gln348_Pro350del
NM_000346.3:c.1041_1049del NP_000337.1:p.Gln348_Pro350del
NM_000346.4:c.1041_1049del MANE Select NP_000337.1:p.Gln348_Pro350del
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