Canonical Allele Identifier: CA2576699781
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26484593_26484600del , CM000664.2:g.26484593_26484600del GRCh38
NC_000002.11:g.26707461_26707468del , CM000664.1:g.26707461_26707468del GRCh37
NC_000002.10:g.26560965_26560972del NCBI36
NG_009937.1:g.79099_79106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1079_1086del MANE Select ENSP00000272371.2:p.Ser360Ter
ENST00000272371.6:c.1079_1086del ENSP00000272371.2:p.Ser360Ter
ENST00000403946.7:c.1079_1086del ENSP00000385255.3:p.Ser360Ter
NM_001287489.1:c.1079_1086del NP_001274418.1:p.Ser360Ter
NM_194248.2:c.1079_1086del NP_919224.1:p.Ser360Ter
XM_005264644.2:c.1124_1131del XP_005264701.1:p.Ser375Ter
XM_011533185.1:c.1124_1131del XP_011531487.1:p.Ser375Ter
XM_017005338.1:c.1079_1086del XP_016860827.1:p.Ser360Ter
NM_001287489.2:c.1079_1086del NP_001274418.1:p.Ser360Ter
NM_194248.3:c.1079_1086del MANE Select NP_919224.1:p.Ser360Ter