Canonical Allele Identifier: CA2612679357

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553195-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553197del , CM000673.2:g.17553197del	GRCh38
NC_000011.9:g.17574744del , CM000673.1:g.17574744del	GRCh37
NC_000011.8:g.17531320del	NCBI36
NG_033191.1:g.10825del
NG_033191.2:g.10825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.407del	ENSP00000382323.2:p.Pro136ArgfsTer?
ENST00000399397.6:c.371del MANE Select	ENSP00000382329.2:p.Pro124ArgfsTer?
ENST00000399391.6:c.407del	ENSP00000382323.2:p.Pro136ArgfsTer?
ENST00000399397.5:c.371del	ENSP00000382329.2:p.Pro124ArgfsTer?
ENST00000428619.1:c.188del	ENSP00000399057.2:p.Pro63ArgfsTer?
ENST00000498332.5:n.277del
NM_001277269.1:c.407del	NP_001264198.1:p.Pro136ArgfsTer?
NM_001292063.1:c.371del	NP_001278992.1:p.Pro124ArgfsTer?
NM_001277269.2:c.407del	NP_001264198.1:p.Pro136ArgfsTer?
NM_001292063.2:c.371del MANE Select	NP_001278992.1:p.Pro124ArgfsTer?