Canonical Allele Identifier: CA2612686819

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612669-CCACGTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612671_17612677del , CM000673.2:g.17612671_17612677del	GRCh38
NC_000011.9:g.17634218_17634224del , CM000673.1:g.17634218_17634224del	GRCh37
NC_000011.8:g.17590794_17590800del	NCBI36
NG_033191.1:g.70299_70305del
NG_033191.2:g.70299_70305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6380_6386del	ENSP00000382323.2:p.His2127LeufsTer?
ENST00000399397.6:c.6344_6350del MANE Select	ENSP00000382329.2:p.His2115LeufsTer?
ENST00000342528.2:c.3398_3404del	ENSP00000341666.2:p.His1133LeufsTer?
ENST00000399391.6:c.6380_6386del	ENSP00000382323.2:p.His2127LeufsTer?
ENST00000399397.5:c.6344_6350del	ENSP00000382329.2:p.His2115LeufsTer?
NM_001277269.1:c.6380_6386del	NP_001264198.1:p.His2127LeufsTer?
NM_001292063.1:c.6344_6350del	NP_001278992.1:p.His2115LeufsTer?
NM_001277269.2:c.6380_6386del	NP_001264198.1:p.His2127LeufsTer?
NM_001292063.2:c.6344_6350del MANE Select	NP_001278992.1:p.His2115LeufsTer?