Canonical Allele Identifier: CA1239827517
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480592_26480605delinsAGGCAGTGGACGAG , CM000664.2:g.26480592_26480605delinsAGGCAGTGGACGAG GRCh38
NC_000002.11:g.26703460_26703473delinsAGGCAGTGGACGAG , CM000664.1:g.26703460_26703473delinsAGGCAGTGGACGAG GRCh37
NC_000002.10:g.26556964_26556977delinsAGGCAGTGGACGAG NCBI36
NG_009937.1:g.83094_83107delinsCTCGTCCACTGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1803+181_1803+194delinsCTCGTCCACTGCCT MANE Select ENSP00000272371.2:n.1803+181_1803+194delinsCTCGTCCACTGCCT
ENST00000272371.6:c.1803+181_1803+194delinsCTCGTCCACTGCCT ENSP00000272371.2:n.1803+181_1803+194delinsCTCGTCCACTGCCT
ENST00000403946.7:c.1803+181_1803+194delinsCTCGTCCACTGCCT ENSP00000385255.3:n.1803+181_1803+194delinsCTCGTCCACTGCCT
NM_001287489.1:c.1803+181_1803+194delinsCTCGTCCACTGCCT NP_001274418.1:n.1803+181_1803+194delinsCTCGTCCACTGCCT
NM_194248.2:c.1803+181_1803+194delinsCTCGTCCACTGCCT NP_919224.1:n.1803+181_1803+194delinsCTCGTCCACTGCCT
XM_005264644.2:c.1848+181_1848+194delinsCTCGTCCACTGCCT XP_005264701.1:n.1848+181_1848+194delinsCTCGTCCACTGCCT
XM_011533185.1:c.1848+181_1848+194delinsCTCGTCCACTGCCT XP_011531487.1:n.1848+181_1848+194delinsCTCGTCCACTGCCT
XM_017005338.1:c.1803+181_1803+194delinsCTCGTCCACTGCCT XP_016860827.1:n.1803+181_1803+194delinsCTCGTCCACTGCCT
NM_001287489.2:c.1803+181_1803+194delinsCTCGTCCACTGCCT NP_001274418.1:n.1803+181_1803+194delinsCTCGTCCACTGCCT
NM_194248.3:c.1803+181_1803+194delinsCTCGTCCACTGCCT MANE Select NP_919224.1:n.1803+181_1803+194delinsCTCGTCCACTGCCT