Canonical Allele Identifier: CA1239829247
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482644_26482668delinsTGCATGTGTGTGTGTGTGAGTGGGC , CM000664.2:g.26482644_26482668delinsTGCATGTGTGTGTGTGTGAGTGGGC GRCh38
NC_000002.11:g.26705512_26705536delinsTGCATGTGTGTGTGTGTGAGTGGGC , CM000664.1:g.26705512_26705536delinsTGCATGTGTGTGTGTGTGAGTGGGC GRCh37
NC_000002.10:g.26559016_26559040delinsTGCATGTGTGTGTGTGTGAGTGGGC NCBI36
NG_009937.1:g.81031_81055delinsGCCCACTCACACACACACACATGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA MANE Select ENSP00000272371.2:n.1393-76_1393-52delinsGCCCACTCACACACACACAC...
ENST00000272371.6:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA ENSP00000272371.2:n.1393-76_1393-52delinsGCCCACTCACACACACACAC...
ENST00000403946.7:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA ENSP00000385255.3:n.1393-76_1393-52delinsGCCCACTCACACACACACAC...
NM_001287489.1:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA NP_001274418.1:n.1393-76_1393-52delinsGCCCACTCACACACACACACATG...
NM_194248.2:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA NP_919224.1:n.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA
XM_005264644.2:c.1438-76_1438-52delinsGCCCACTCACACACACACACATGCA XP_005264701.1:n.1438-76_1438-52delinsGCCCACTCACACACACACACATG...
XM_011533185.1:c.1438-76_1438-52delinsGCCCACTCACACACACACACATGCA XP_011531487.1:n.1438-76_1438-52delinsGCCCACTCACACACACACACATG...
XM_017005338.1:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA XP_016860827.1:n.1393-76_1393-52delinsGCCCACTCACACACACACACATG...
NM_001287489.2:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA NP_001274418.1:n.1393-76_1393-52delinsGCCCACTCACACACACACACATG...
NM_194248.3:c.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA MANE Select NP_919224.1:n.1393-76_1393-52delinsGCCCACTCACACACACACACATGCA