Canonical Allele Identifier: CA627589979
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1012429
ClinVar RCV Id: RCV001310377
dbSNP Id: rs1274036689
gnomAD v2: 17-70119780-AG-A
COSMIC: COSM4729222
MyVariant Identifiers: chr17:g.70119781del (hg19) chr17:g.72123640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123645del , CM000679.2:g.72123645del GRCh38
NC_000017.10:g.70119786del , CM000679.1:g.70119786del GRCh37
NC_000017.9:g.67631381del NCBI36
NG_012490.1:g.7626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.788del MANE Select ENSP00000245479.2:p.Gly263AlafsTer16
ENST00000245479.2:c.788del ENSP00000245479.2:p.Gly263AlafsTer16
NM_000346.3:c.788del NP_000337.1:p.Gly263AlafsTer16
NM_000346.4:c.788del MANE Select NP_000337.1:p.Gly263AlafsTer16
Search 100 bp 5'
Search 100 bp 3'