Canonical Allele Identifier: CA2499215834
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 1213555
ClinVar RCV Id: RCV001581704
dbSNP Id: rs2148057126

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26481015_26481016delinsAA , CM000664.2:g.26481015_26481016delinsAA GRCh38
NC_000002.11:g.26703883_26703884delinsAA , CM000664.1:g.26703883_26703884delinsAA GRCh37
NC_000002.10:g.26557387_26557388delinsAA NCBI36
NG_009937.1:g.82683_82684delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1580-7_1580-6delinsTT MANE Select ENSP00000272371.2:n.1580-7_1580-6delinsTT
ENST00000272371.6:c.1580-7_1580-6delinsTT ENSP00000272371.2:n.1580-7_1580-6delinsTT
ENST00000403946.7:c.1580-7_1580-6delinsTT ENSP00000385255.3:n.1580-7_1580-6delinsTT
NM_001287489.1:c.1580-7_1580-6delinsTT NP_001274418.1:n.1580-7_1580-6delinsTT
NM_194248.2:c.1580-7_1580-6delinsTT NP_919224.1:n.1580-7_1580-6delinsTT
XM_005264644.2:c.1625-7_1625-6delinsTT XP_005264701.1:n.1625-7_1625-6delinsTT
XM_011533185.1:c.1625-7_1625-6delinsTT XP_011531487.1:n.1625-7_1625-6delinsTT
XM_017005338.1:c.1580-7_1580-6delinsTT XP_016860827.1:n.1580-7_1580-6delinsTT
NM_001287489.2:c.1580-7_1580-6delinsTT NP_001274418.1:n.1580-7_1580-6delinsTT
NM_194248.3:c.1580-7_1580-6delinsTT MANE Select NP_919224.1:n.1580-7_1580-6delinsTT