Canonical Allele Identifier: CA2506525582
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122344_72122345del , CM000679.2:g.72122344_72122345del GRCh38
NC_000017.10:g.70118485_70118486del , CM000679.1:g.70118485_70118486del GRCh37
NC_000017.9:g.67630080_67630081del NCBI36
NG_012490.1:g.6325_6326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-375_432-374del MANE Select ENSP00000245479.2:n.432-375_432-374del
ENST00000245479.2:c.432-375_432-374del ENSP00000245479.2:n.432-375_432-374del
NM_000346.3:c.432-375_432-374del NP_000337.1:n.432-375_432-374del
NM_000346.4:c.432-375_432-374del MANE Select NP_000337.1:n.432-375_432-374del