Canonical Allele Identifier: CA2545918612
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122354_72122355del , CM000679.2:g.72122354_72122355del GRCh38
NC_000017.10:g.70118495_70118496del , CM000679.1:g.70118495_70118496del GRCh37
NC_000017.9:g.67630090_67630091del NCBI36
NG_012490.1:g.6335_6336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-365_432-364del MANE Select ENSP00000245479.2:n.432-365_432-364del
ENST00000245479.2:c.432-365_432-364del ENSP00000245479.2:n.432-365_432-364del
NM_000346.3:c.432-365_432-364del NP_000337.1:n.432-365_432-364del
NM_000346.4:c.432-365_432-364del MANE Select NP_000337.1:n.432-365_432-364del