Canonical Allele Identifier: CA645598931
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2631642
ClinVar RCV Id: RCV003397417
gnomAD v4: 17-72123889-AC-A
COSMIC: COSM2976238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123894del , CM000679.2:g.72123894del GRCh38
NC_000017.10:g.70120035del , CM000679.1:g.70120035del GRCh37
NC_000017.9:g.67631630del NCBI36
NG_012490.1:g.7875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1037del MANE Select ENSP00000245479.2:p.Pro346ArgfsTer?
ENST00000245479.2:c.1037del ENSP00000245479.2:p.Pro346ArgfsTer?
NM_000346.3:c.1037del NP_000337.1:p.Pro346ArgfsTer?
NM_000346.4:c.1037del MANE Select NP_000337.1:p.Pro346ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'