Canonical Allele Identifier: CA2273926591
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2086003
ClinVar RCV Id: RCV003005409
dbSNP Id: rs1486257792
gnomAD v4: 17-72123996-ACACGCTGAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124005_72124013del , CM000679.2:g.72124005_72124013del GRCh38
NC_000017.10:g.70120146_70120154del , CM000679.1:g.70120146_70120154del GRCh37
NC_000017.9:g.67631741_67631749del NCBI36
NG_012490.1:g.7986_7994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1148_1156del MANE Select ENSP00000245479.2:p.Thr383_Leu385del
ENST00000245479.2:c.1148_1156del ENSP00000245479.2:p.Thr383_Leu385del
NM_000346.3:c.1148_1156del NP_000337.1:p.Thr383_Leu385del
NM_000346.4:c.1148_1156del MANE Select NP_000337.1:p.Thr383_Leu385del
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Search 100 bp 3'