Canonical Allele Identifier: CA2612679566

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553406-T-TG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.468dup	ENSP00000382323.2:p.Gln157AlafsTer8
ENST00000399397.6:c.432dup MANE Select	ENSP00000382329.2:p.Gln145AlafsTer8
ENST00000399391.6:c.468dup	ENSP00000382323.2:p.Gln157AlafsTer8
ENST00000399397.5:c.432dup	ENSP00000382329.2:p.Gln145AlafsTer8
ENST00000428619.1:c.249dup	ENSP00000399057.2:p.Gln84AlafsTer8
ENST00000498332.5:n.338dup
NM_001277269.1:c.468dup	NP_001264198.1:p.Gln157AlafsTer8
NM_001292063.1:c.432dup	NP_001278992.1:p.Gln145AlafsTer8
NM_001277269.2:c.468dup	NP_001264198.1:p.Gln157AlafsTer8
NM_001292063.2:c.432dup MANE Select	NP_001278992.1:p.Gln145AlafsTer8