Canonical Allele Identifier: CA2612686947

Gene: OTOG

Linked Data

• gnomAD v4: 11-17612754-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612755del , CM000673.2:g.17612755del	GRCh38
NC_000011.9:g.17634302del , CM000673.1:g.17634302del	GRCh37
NC_000011.8:g.17590878del	NCBI36
NG_033191.1:g.70383del
NG_033191.2:g.70383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6464del	ENSP00000382323.2:p.Ser2155MetfsTer7
ENST00000399397.6:c.6428del MANE Select	ENSP00000382329.2:p.Ser2143MetfsTer7
ENST00000342528.2:c.3482del	ENSP00000341666.2:p.Ser1161MetfsTer7
ENST00000399391.6:c.6464del	ENSP00000382323.2:p.Ser2155MetfsTer7
ENST00000399397.5:c.6428del	ENSP00000382329.2:p.Ser2143MetfsTer7
NM_001277269.1:c.6464del	NP_001264198.1:p.Ser2155MetfsTer7
NM_001292063.1:c.6428del	NP_001278992.1:p.Ser2143MetfsTer7
NM_001277269.2:c.6464del	NP_001264198.1:p.Ser2155MetfsTer7
NM_001292063.2:c.6428del MANE Select	NP_001278992.1:p.Ser2143MetfsTer7