Canonical Allele Identifier: CA2580095136

Gene: SOX9

Linked Data

• ClinVar Variation Id: 2008010
• ClinVar RCV Id: RCV002833543

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122720_72122736del , CM000679.2:g.72122720_72122736del	GRCh38
NC_000017.10:g.70118861_70118877del , CM000679.1:g.70118861_70118877del	GRCh37
NC_000017.9:g.67630456_67630472del	NCBI36
NG_012490.1:g.6701_6717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.433_449del
ENST00000245479.2:c.433_449del
NM_000346.3:c.433_449del
NM_000346.4:c.433_449del