Canonical Allele Identifier: CA2576374502

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123463_72123464dup , CM000679.2:g.72123463_72123464dup	GRCh38
NC_000017.10:g.70119604_70119605dup , CM000679.1:g.70119604_70119605dup	GRCh37
NC_000017.9:g.67631199_67631200dup	NCBI36
NG_012490.1:g.7444_7445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.686-80_686-79dup MANE Select	ENSP00000245479.2:n.686-80_686-79dup
ENST00000245479.2:c.686-80_686-79dup	ENSP00000245479.2:n.686-80_686-79dup
NM_000346.3:c.686-80_686-79dup	NP_000337.1:n.686-80_686-79dup
NM_000346.4:c.686-80_686-79dup MANE Select	NP_000337.1:n.686-80_686-79dup