Canonical Allele Identifier: CA2273925671

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122365_72122367delinsGAA , CM000679.2:g.72122365_72122367delinsGAA	GRCh38
NC_000017.10:g.70118506_70118508delinsGAA , CM000679.1:g.70118506_70118508delinsGAA	GRCh37
NC_000017.9:g.67630101_67630103delinsGAA	NCBI36
NG_012490.1:g.6346_6348delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-354_432-352delinsGAA MANE Select	ENSP00000245479.2:n.432-354_432-352delinsGAA
ENST00000245479.2:c.432-354_432-352delinsGAA	ENSP00000245479.2:n.432-354_432-352delinsGAA
NM_000346.3:c.432-354_432-352delinsGAA	NP_000337.1:n.432-354_432-352delinsGAA
NM_000346.4:c.432-354_432-352delinsGAA MANE Select	NP_000337.1:n.432-354_432-352delinsGAA