Canonical Allele Identifier: CA2612681898
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17570144-AGGTGGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17570153_17570158del , CM000673.2:g.17570153_17570158del GRCh38
NC_000011.9:g.17591700_17591705del , CM000673.1:g.17591700_17591705del GRCh37
NC_000011.8:g.17548276_17548281del NCBI36
NG_033191.1:g.27781_27786del
NG_033191.2:g.27781_27786del

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.1814-60_1814-55del ENSP00000382323.2:n.1814-60_1814-55del
ENST00000399397.6:c.1778-60_1778-55del MANE Select ENSP00000382329.2:n.1778-60_1778-55del
ENST00000399391.6:c.1814-60_1814-55del ENSP00000382323.2:n.1814-60_1814-55del
ENST00000399397.5:c.1778-60_1778-55del ENSP00000382329.2:n.1778-60_1778-55del
ENST00000498332.5:n.1684-60_1684-55del
NM_001277269.1:c.1814-60_1814-55del NP_001264198.1:n.1814-60_1814-55del
NM_001292063.1:c.1778-60_1778-55del NP_001278992.1:n.1778-60_1778-55del
NM_001277269.2:c.1814-60_1814-55del NP_001264198.1:n.1814-60_1814-55del
NM_001292063.2:c.1778-60_1778-55del MANE Select NP_001278992.1:n.1778-60_1778-55del
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