Canonical Allele Identifier: CA2273925682

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122378_72122384delinsGGGGGTT , CM000679.2:g.72122378_72122384delinsGGGGGTT	GRCh38
NC_000017.10:g.70118519_70118525delinsGGGGGTT , CM000679.1:g.70118519_70118525delinsGGGGGTT	GRCh37
NC_000017.9:g.67630114_67630120delinsGGGGGTT	NCBI36
NG_012490.1:g.6359_6365delinsGGGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-341_432-335delinsGGGGGTT MANE Select	ENSP00000245479.2:n.432-341_432-335delinsGGGGGTT
ENST00000245479.2:c.432-341_432-335delinsGGGGGTT	ENSP00000245479.2:n.432-341_432-335delinsGGGGGTT
NM_000346.3:c.432-341_432-335delinsGGGGGTT	NP_000337.1:n.432-341_432-335delinsGGGGGTT
NM_000346.4:c.432-341_432-335delinsGGGGGTT MANE Select	NP_000337.1:n.432-341_432-335delinsGGGGGTT