Canonical Allele Identifier: CA2612688148

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612296-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612300del , CM000673.2:g.17612300del	GRCh38
NC_000011.9:g.17633847del , CM000673.1:g.17633847del	GRCh37
NC_000011.8:g.17590423del	NCBI36
NG_033191.1:g.69928del
NG_033191.2:g.69928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6298del	ENSP00000382323.2:p.Asp2100ThrfsTer19
ENST00000399397.6:c.6262del MANE Select	ENSP00000382329.2:p.Asp2088ThrfsTer19
ENST00000342528.2:c.3316del	ENSP00000341666.2:p.Asp1106ThrfsTer19
ENST00000399391.6:c.6298del	ENSP00000382323.2:p.Asp2100ThrfsTer19
ENST00000399397.5:c.6262del	ENSP00000382329.2:p.Asp2088ThrfsTer19
NM_001277269.1:c.6298del	NP_001264198.1:p.Asp2100ThrfsTer19
NM_001292063.1:c.6262del	NP_001278992.1:p.Asp2088ThrfsTer19
NM_001277269.2:c.6298del	NP_001264198.1:p.Asp2100ThrfsTer19
NM_001292063.2:c.6262del MANE Select	NP_001278992.1:p.Asp2088ThrfsTer19