Canonical Allele Identifier: CA2810344932

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122465_72122466dup , CM000679.2:g.72122465_72122466dup	GRCh38
NC_000017.10:g.70118606_70118607dup , CM000679.1:g.70118606_70118607dup	GRCh37
NC_000017.9:g.67630201_67630202dup	NCBI36
NG_012490.1:g.6446_6447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-254_432-253dup MANE Select	ENSP00000245479.2:n.432-254_432-253dup
ENST00000245479.2:c.432-254_432-253dup	ENSP00000245479.2:n.432-254_432-253dup
NM_000346.3:c.432-254_432-253dup	NP_000337.1:n.432-254_432-253dup
NM_000346.4:c.432-254_432-253dup MANE Select	NP_000337.1:n.432-254_432-253dup