Canonical Allele Identifier: CA2639603109

Gene: SOX9

Linked Data

• gnomAD v4: 17-72123537-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123540_72123541del , CM000679.2:g.72123540_72123541del	GRCh38
NC_000017.10:g.70119681_70119682del , CM000679.1:g.70119681_70119682del	GRCh37
NC_000017.9:g.67631276_67631277del	NCBI36
NG_012490.1:g.7521_7522del

Transcript Alleles

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