Canonical Allele Identifier: CA597904750

Gene: OTOG

Linked Data

• dbSNP Id: rs1234828448
• gnomAD v2: 11-17574779-AC-A
• gnomAD v4: 11-17553232-AC-A
• MyVariant Identifiers: chr11:g.17574780del (hg19) ; chr11:g.17553233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553237del , CM000673.2:g.17553237del	GRCh38
NC_000011.9:g.17574784del , CM000673.1:g.17574784del	GRCh37
NC_000011.8:g.17531360del	NCBI36
NG_033191.1:g.10865del
NG_033191.2:g.10865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.421+26del	ENSP00000382323.2:n.421+26del
ENST00000399397.6:c.385+26del MANE Select	ENSP00000382329.2:n.385+26del
ENST00000399391.6:c.421+26del	ENSP00000382323.2:n.421+26del
ENST00000399397.5:c.385+26del	ENSP00000382329.2:n.385+26del
ENST00000428619.1:c.202+26del	ENSP00000399057.2:n.202+26del
ENST00000498332.5:n.291+26del
NM_001277269.1:c.421+26del	NP_001264198.1:n.421+26del
NM_001292063.1:c.385+26del	NP_001278992.1:n.385+26del
NM_001277269.2:c.421+26del	NP_001264198.1:n.421+26del
NM_001292063.2:c.385+26del MANE Select	NP_001278992.1:n.385+26del