Canonical Allele Identifier: CA8739089

Gene: SOX9

Linked Data

• ClinVar Variation Id: 1702488
• ClinVar RCV Id: RCV002278806
• dbSNP Id: rs765759003
• ExAC: 17:70120086 AGGCGGCGCCCCCACAGCAGCC / A
• gnomAD v2: 17-70120086-AGGCGGCGCCCCCACAGCAGCC-A
• gnomAD v3: 17-72123945-AGGCGGCGCCCCCACAGCAGCC-A
• gnomAD v4: 17-72123945-AGGCGGCGCCCCCACAGCAGCC-A
• MyVariant Identifiers: chr17:g.70120087_70120107del (hg19) ; chr17:g.72123946_72123966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123952_72123972del , CM000679.2:g.72123952_72123972del	GRCh38
NC_000017.10:g.70120093_70120113del , CM000679.1:g.70120093_70120113del	GRCh37
NC_000017.9:g.67631688_67631708del	NCBI36
NG_012490.1:g.7933_7953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1095_1115del MANE Select	ENSP00000245479.2:p.Pro366_Ala372del
ENST00000245479.2:c.1095_1115del	ENSP00000245479.2:p.Pro366_Ala372del
NM_000346.3:c.1095_1115del	NP_000337.1:p.Pro366_Ala372del
NM_000346.4:c.1095_1115del MANE Select	NP_000337.1:p.Pro366_Ala372del