Canonical Allele Identifier: CA2810344910
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122444_72122456del , CM000679.2:g.72122444_72122456del GRCh38
NC_000017.10:g.70118585_70118597del , CM000679.1:g.70118585_70118597del GRCh37
NC_000017.9:g.67630180_67630192del NCBI36
NG_012490.1:g.6425_6437del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-275_432-263del MANE Select ENSP00000245479.2:n.432-275_432-263del
ENST00000245479.2:c.432-275_432-263del ENSP00000245479.2:n.432-275_432-263del
NM_000346.3:c.432-275_432-263del NP_000337.1:n.432-275_432-263del
NM_000346.4:c.432-275_432-263del MANE Select NP_000337.1:n.432-275_432-263del