Canonical Allele Identifier: CA8739077
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 324918
ClinVar RCV Id: RCV000331219 RCV003103757 RCV003940286
dbSNP Id: rs776337541
ExAC: 17:70120019 G / GCGC
gnomAD v2: 17-70120019-G-GCGC
gnomAD v3: 17-72123878-G-GCGC
gnomAD v4: 17-72123878-G-GCGC
MyVariant Identifiers: chr17:g.70120027_70120029dupGCC (hg19) chr17:g.70120019_70120020insCGC (hg19) chr17:g.72123886_72123888dupGCC (hg38) chr17:g.72123878_72123879insCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123886_72123888dup , CM000679.2:g.72123886_72123888dup GRCh38
NC_000017.10:g.70120027_70120029dup , CM000679.1:g.70120027_70120029dup GRCh37
NC_000017.9:g.67631622_67631624dup NCBI36
NG_012490.1:g.7867_7869dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1029_1031dup MANE Select ENSP00000245479.2:p.Pro344_Pro345insPro
ENST00000245479.2:c.1029_1031dup ENSP00000245479.2:p.Pro344_Pro345insPro
NM_000346.3:c.1029_1031dup NP_000337.1:p.Pro344_Pro345insPro
NM_000346.4:c.1029_1031dup MANE Select NP_000337.1:p.Pro344_Pro345insPro
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