Canonical Allele Identifier: CA2501508302

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122348_72122349del , CM000679.2:g.72122348_72122349del	GRCh38
NC_000017.10:g.70118489_70118490del , CM000679.1:g.70118489_70118490del	GRCh37
NC_000017.9:g.67630084_67630085del	NCBI36
NG_012490.1:g.6329_6330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-371_432-370del MANE Select	ENSP00000245479.2:n.432-371_432-370del
ENST00000245479.2:c.432-371_432-370del	ENSP00000245479.2:n.432-371_432-370del
NM_000346.3:c.432-371_432-370del	NP_000337.1:n.432-371_432-370del
NM_000346.4:c.432-371_432-370del MANE Select	NP_000337.1:n.432-371_432-370del