Canonical Allele Identifier: CA2632220218

Gene: OTOA

Linked Data

• gnomAD v4: 16-21710020-G-GCCATCTCCACCCTCAACCAGGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21710022_21710045dup , CM000678.2:g.21710022_21710045dup	GRCh38
NC_000016.9:g.21721343_21721366dup , CM000678.1:g.21721343_21721366dup	GRCh37
NC_000016.8:g.21628844_21628867dup	NCBI36
NG_012973.1:g.36509_36532dup
NG_012973.2:g.50890_50913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388958.8:c.1239_1262dup	ENSP00000373610.3:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
ENST00000646100.2:c.1239_1262dup MANE Select	ENSP00000496564.2:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
ENST00000647277.1:c.*53_*76dup	ENSP00000495594.1:n.*53_*76dup
ENST00000286149.8:c.1281_1304dup	ENSP00000286149.4:p.Ser435_Gly436insIleSerThrLeuAsnGlnValSer
ENST00000388956.8:c.1002_1025dup	ENSP00000373608.4:p.Ser342_Gly343insIleSerThrLeuAsnGlnValSer
ENST00000388957.3:c.267_290dup	ENSP00000373609.3:p.Ser97_Gly98insIleSerThrLeuAsnGlnValSer
ENST00000388958.7:c.1239_1262dup	ENSP00000373610.3:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
ENST00000563871.5:n.459_482dup
NM_001161683.1:c.1002_1025dup	NP_001155155.1:p.Ser342_Gly343insIleSerThrLeuAsnGlnValSer
NM_144672.3:c.1239_1262dup	NP_653273.3:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
NM_170664.2:c.267_290dup	NP_733764.1:p.Ser97_Gly98insIleSerThrLeuAsnGlnValSer
XM_011545747.1:c.1239_1262dup	XP_011544049.1:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
XM_011545748.1:c.108_131dup	XP_011544050.1:p.Ser44_Gly45insIleSerThrLeuAsnGlnValSer
NM_144672.4:c.1239_1262dup MANE Select	NP_653273.3:p.Ser421_Gly422insIleSerThrLeuAsnGlnValSer
XM_011545748.2:c.108_131dup	XP_011544050.2:p.Ser44_Gly45insIleSerThrLeuAsnGlnValSer
XR_002957775.1:n.334_357dup
NM_001161683.2:c.1002_1025dup	NP_001155155.1:p.Ser342_Gly343insIleSerThrLeuAsnGlnValSer
NM_170664.3:c.267_290dup	NP_733764.1:p.Ser97_Gly98insIleSerThrLeuAsnGlnValSer