Canonical Allele Identifier: CA627589954
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1195644
ClinVar RCV Id: RCV001558807
dbSNP Id: rs1406338336
gnomAD v2: 17-70120054-CCCGCCGGCCCCGCAGGCGCCCCCGCAG-C
gnomAD v3: 17-72123913-CCCGCCGGCCCCGCAGGCGCCCCCGCAG-C
gnomAD v4: 17-72123913-CCCGCCGGCCCCGCAGGCGCCCCCGCAG-C
MyVariant Identifiers: chr17:g.70120055_70120081del (hg19) chr17:g.72123914_72123940del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123918_72123944del , CM000679.2:g.72123918_72123944del GRCh38
NC_000017.10:g.70120059_70120085del , CM000679.1:g.70120059_70120085del GRCh37
NC_000017.9:g.67631654_67631680del NCBI36
NG_012490.1:g.7899_7925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1061_1087del MANE Select ENSP00000245479.2:p.Pro354_Pro362del
ENST00000245479.2:c.1061_1087del ENSP00000245479.2:p.Pro354_Pro362del
NM_000346.3:c.1061_1087del NP_000337.1:p.Pro354_Pro362del
NM_000346.4:c.1061_1087del MANE Select NP_000337.1:p.Pro354_Pro362del
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