Canonical Allele Identifier: CA2574771157

Gene: OTOG

Linked Data

• gnomAD v4: 11-17635158-G-GGGACTCCTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635160_17635170dup , CM000673.2:g.17635160_17635170dup	GRCh38
NC_000011.9:g.17656707_17656717dup , CM000673.1:g.17656707_17656717dup	GRCh37
NC_000011.8:g.17613283_17613293dup	NCBI36
NG_033191.1:g.92788_92798dup
NG_033191.2:g.92788_92798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7702_7712dup	ENSP00000382323.2:p.Cys2571TrpfsTer?
ENST00000399397.6:c.7666_7676dup MANE Select	ENSP00000382329.2:p.Cys2559TrpfsTer?
ENST00000342528.2:c.4322-450_4322-440dup	ENSP00000341666.2:n.4322-450_4322-440dup
ENST00000399391.6:c.7702_7712dup	ENSP00000382323.2:p.Cys2571TrpfsTer?
ENST00000399397.5:c.7666_7676dup	ENSP00000382329.2:p.Cys2559TrpfsTer?
NM_001277269.1:c.7702_7712dup	NP_001264198.1:p.Cys2571TrpfsTer?
NM_001292063.1:c.7666_7676dup	NP_001278992.1:p.Cys2559TrpfsTer?
NM_001277269.2:c.7702_7712dup	NP_001264198.1:p.Cys2571TrpfsTer?
NM_001292063.2:c.7666_7676dup MANE Select	NP_001278992.1:p.Cys2559TrpfsTer?