Canonical Allele Identifier: CA2830555109
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553663_17553664del , CM000673.2:g.17553663_17553664del GRCh38
NC_000011.9:g.17575210_17575211del , CM000673.1:g.17575210_17575211del GRCh37
NC_000011.8:g.17531786_17531787del NCBI36
NG_033191.1:g.11291_11292del
NG_033191.2:g.11291_11292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+144_576+145del ENSP00000382323.2:n.576+144_576+145del
ENST00000399397.6:c.540+144_540+145del MANE Select ENSP00000382329.2:n.540+144_540+145del
ENST00000399391.6:c.576+144_576+145del ENSP00000382323.2:n.576+144_576+145del
ENST00000399397.5:c.540+144_540+145del ENSP00000382329.2:n.540+144_540+145del
ENST00000498332.5:n.446+144_446+145del
NM_001277269.1:c.576+144_576+145del NP_001264198.1:n.576+144_576+145del
NM_001292063.1:c.540+144_540+145del NP_001278992.1:n.540+144_540+145del
NM_001277269.2:c.576+144_576+145del NP_001264198.1:n.576+144_576+145del
NM_001292063.2:c.540+144_540+145del MANE Select NP_001278992.1:n.540+144_540+145del