Canonical Allele Identifier: CA2576699683
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480871_26480886del , CM000664.2:g.26480871_26480886del GRCh38
NC_000002.11:g.26703739_26703754del , CM000664.1:g.26703739_26703754del GRCh37
NC_000002.10:g.26557243_26557258del NCBI36
NG_009937.1:g.82817_82832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1707_1722del MANE Select ENSP00000272371.2:p.Leu570TrpfsTer4
ENST00000272371.6:c.1707_1722del ENSP00000272371.2:p.Leu570TrpfsTer4
ENST00000403946.7:c.1707_1722del ENSP00000385255.3:p.Leu570TrpfsTer4
NM_001287489.1:c.1707_1722del NP_001274418.1:p.Leu570TrpfsTer4
NM_194248.2:c.1707_1722del NP_919224.1:p.Leu570TrpfsTer4
XM_005264644.2:c.1752_1767del XP_005264701.1:p.Leu585TrpfsTer4
XM_011533185.1:c.1752_1767del XP_011531487.1:p.Leu585TrpfsTer4
XM_017005338.1:c.1707_1722del XP_016860827.1:p.Leu570TrpfsTer4
NM_001287489.2:c.1707_1722del NP_001274418.1:p.Leu570TrpfsTer4
NM_194248.3:c.1707_1722del MANE Select NP_919224.1:p.Leu570TrpfsTer4