Canonical Allele Identifier: CA2810344939

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122501_72122502insC , CM000679.2:g.72122501_72122502insC	GRCh38
NC_000017.10:g.70118642_70118643insC , CM000679.1:g.70118642_70118643insC	GRCh37
NC_000017.9:g.67630237_67630238insC	NCBI36
NG_012490.1:g.6482_6483insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-218_432-217insC MANE Select	ENSP00000245479.2:n.432-218_432-217insC
ENST00000245479.2:c.432-218_432-217insC	ENSP00000245479.2:n.432-218_432-217insC
NM_000346.3:c.432-218_432-217insC	NP_000337.1:n.432-218_432-217insC
NM_000346.4:c.432-218_432-217insC MANE Select	NP_000337.1:n.432-218_432-217insC