Canonical Allele Identifier: CA2537221181

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122331_72122332insCTCGG , CM000679.2:g.72122331_72122332insCTCGG	GRCh38
NC_000017.10:g.70118472_70118473insCTCGG , CM000679.1:g.70118472_70118473insCTCGG	GRCh37
NC_000017.9:g.67630067_67630068insCTCGG	NCBI36
NG_012490.1:g.6312_6313insCTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-388_432-387insCTCGG MANE Select	ENSP00000245479.2:n.432-388_432-387insCTCGG
ENST00000245479.2:c.432-388_432-387insCTCGG	ENSP00000245479.2:n.432-388_432-387insCTCGG
NM_000346.3:c.432-388_432-387insCTCGG	NP_000337.1:n.432-388_432-387insCTCGG
NM_000346.4:c.432-388_432-387insCTCGG MANE Select	NP_000337.1:n.432-388_432-387insCTCGG