Canonical Allele Identifier: CA2574770904
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612821_17612822del , CM000673.2:g.17612821_17612822del GRCh38
NC_000011.9:g.17634368_17634369del , CM000673.1:g.17634368_17634369del GRCh37
NC_000011.8:g.17590944_17590945del NCBI36
NG_033191.1:g.70449_70450del
NG_033191.2:g.70449_70450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6474+56_6474+57del ENSP00000382323.2:n.6474+56_6474+57del
ENST00000399397.6:c.6438+56_6438+57del MANE Select ENSP00000382329.2:n.6438+56_6438+57del
ENST00000342528.2:c.3492+56_3492+57del ENSP00000341666.2:n.3492+56_3492+57del
ENST00000399391.6:c.6474+56_6474+57del ENSP00000382323.2:n.6474+56_6474+57del
ENST00000399397.5:c.6438+56_6438+57del ENSP00000382329.2:n.6438+56_6438+57del
NM_001277269.1:c.6474+56_6474+57del NP_001264198.1:n.6474+56_6474+57del
NM_001292063.1:c.6438+56_6438+57del NP_001278992.1:n.6438+56_6438+57del
NM_001277269.2:c.6474+56_6474+57del NP_001264198.1:n.6474+56_6474+57del
NM_001292063.2:c.6438+56_6438+57del MANE Select NP_001278992.1:n.6438+56_6438+57del