Canonical Allele Identifier: CA8739093
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007550
ClinVar RCV Id: RCV001304745
dbSNP Id: rs753262382
ExAC: 17:70120093 GCCCCCACAGCAGCCGGCGGCA / G
gnomAD v2: 17-70120093-GCCCCCACAGCAGCCGGCGGCA-G
gnomAD v3: 17-72123952-GCCCCCACAGCAGCCGGCGGCA-G
gnomAD v4: 17-72123952-GCCCCCACAGCAGCCGGCGGCA-G
MyVariant Identifiers: chr17:g.70120094_70120114del (hg19) chr17:g.72123954_72123974del (hg38) chr17:g.72123953_72123973del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123958_72123978del , CM000679.2:g.72123958_72123978del GRCh38
NC_000017.10:g.70120099_70120119del , CM000679.1:g.70120099_70120119del GRCh37
NC_000017.9:g.67631694_67631714del NCBI36
NG_012490.1:g.7939_7959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1101_1121del MANE Select ENSP00000245479.2:p.Gln368_Pro374del
ENST00000245479.2:c.1101_1121del ENSP00000245479.2:p.Gln368_Pro374del
NM_000346.3:c.1101_1121del NP_000337.1:p.Gln368_Pro374del
NM_000346.4:c.1101_1121del MANE Select NP_000337.1:p.Gln368_Pro374del
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