Canonical Allele Identifier: CA597904650

Gene: OTOG

Linked Data

• ClinVar Variation Id: 817689
• ClinVar RCV Id: RCV001008895
• dbSNP Id: rs1393191930
• gnomAD v2: 11-17574953-TG-T
• gnomAD v4: 11-17553406-TG-T
• MyVariant Identifiers: chr11:g.17574954del (hg19) ; chr11:g.17553407del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553411del , CM000673.2:g.17553411del	GRCh38
NC_000011.9:g.17574958del , CM000673.1:g.17574958del	GRCh37
NC_000011.8:g.17531534del	NCBI36
NG_033191.1:g.11039del
NG_033191.2:g.11039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.468del	ENSP00000382323.2:p.Gln157SerfsTer?
ENST00000399397.6:c.432del MANE Select	ENSP00000382329.2:p.Gln145SerfsTer?
ENST00000399391.6:c.468del	ENSP00000382323.2:p.Gln157SerfsTer?
ENST00000399397.5:c.432del	ENSP00000382329.2:p.Gln145SerfsTer?
ENST00000428619.1:c.249del	ENSP00000399057.2:p.Gln84SerfsTer?
ENST00000498332.5:n.338del
NM_001277269.1:c.468del	NP_001264198.1:p.Gln157SerfsTer?
NM_001292063.1:c.432del	NP_001278992.1:p.Gln145SerfsTer?
NM_001277269.2:c.468del	NP_001264198.1:p.Gln157SerfsTer?
NM_001292063.2:c.432del MANE Select	NP_001278992.1:p.Gln145SerfsTer?