Canonical Allele Identifier: CA2810344913
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122447_72122462del , CM000679.2:g.72122447_72122462del GRCh38
NC_000017.10:g.70118588_70118603del , CM000679.1:g.70118588_70118603del GRCh37
NC_000017.9:g.67630183_67630198del NCBI36
NG_012490.1:g.6428_6443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-272_432-257del MANE Select ENSP00000245479.2:n.432-272_432-257del
ENST00000245479.2:c.432-272_432-257del ENSP00000245479.2:n.432-272_432-257del
NM_000346.3:c.432-272_432-257del NP_000337.1:n.432-272_432-257del
NM_000346.4:c.432-272_432-257del MANE Select NP_000337.1:n.432-272_432-257del