Canonical Allele Identifier: CA2639603098

Gene: SOX9

Linked Data

• gnomAD v4: 17-72123488-GGCGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123491_72123496del , CM000679.2:g.72123491_72123496del	GRCh38
NC_000017.10:g.70119632_70119637del , CM000679.1:g.70119632_70119637del	GRCh37
NC_000017.9:g.67631227_67631232del	NCBI36
NG_012490.1:g.7472_7477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.686-52_686-47del MANE Select	ENSP00000245479.2:n.686-52_686-47del
ENST00000245479.2:c.686-52_686-47del	ENSP00000245479.2:n.686-52_686-47del
NM_000346.3:c.686-52_686-47del	NP_000337.1:n.686-52_686-47del
NM_000346.4:c.686-52_686-47del MANE Select	NP_000337.1:n.686-52_686-47del