Canonical Allele Identifier: CA2574770903
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612805_17612816del , CM000673.2:g.17612805_17612816del GRCh38
NC_000011.9:g.17634352_17634363del , CM000673.1:g.17634352_17634363del GRCh37
NC_000011.8:g.17590928_17590939del NCBI36
NG_033191.1:g.70433_70444del
NG_033191.2:g.70433_70444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6474+40_6474+51del ENSP00000382323.2:n.6474+40_6474+51del
ENST00000399397.6:c.6438+40_6438+51del MANE Select ENSP00000382329.2:n.6438+40_6438+51del
ENST00000342528.2:c.3492+40_3492+51del ENSP00000341666.2:n.3492+40_3492+51del
ENST00000399391.6:c.6474+40_6474+51del ENSP00000382323.2:n.6474+40_6474+51del
ENST00000399397.5:c.6438+40_6438+51del ENSP00000382329.2:n.6438+40_6438+51del
NM_001277269.1:c.6474+40_6474+51del NP_001264198.1:n.6474+40_6474+51del
NM_001292063.1:c.6438+40_6438+51del NP_001278992.1:n.6438+40_6438+51del
NM_001277269.2:c.6474+40_6474+51del NP_001264198.1:n.6474+40_6474+51del
NM_001292063.2:c.6438+40_6438+51del MANE Select NP_001278992.1:n.6438+40_6438+51del