Canonical Allele Identifier: CA2658238892

Gene: OTOF

Linked Data

• gnomAD v4: 2-26482646-C-CGTGTGTGTGAGTGGGAGCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482646_26482647insGTGTGTGTGAGTGGGAGCAT , CM000664.2:g.26482646_26482647insGTGTGTGTGAGTGGGAGCAT	GRCh38
NC_000002.11:g.26705514_26705515insGTGTGTGTGAGTGGGAGCAT , CM000664.1:g.26705514_26705515insGTGTGTGTGAGTGGGAGCAT	GRCh37
NC_000002.10:g.26559018_26559019insGTGTGTGTGAGTGGGAGCAT	NCBI36
NG_009937.1:g.81052_81053insATGCTCCCACTCACACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-55_1393-54insATGCTCCCACTCACACACAC MANE Select	ENSP00000272371.2:n.1393-55_1393-54insATGCTCCCACTCACACACAC
ENST00000272371.6:c.1393-55_1393-54insATGCTCCCACTCACACACAC	ENSP00000272371.2:n.1393-55_1393-54insATGCTCCCACTCACACACAC
ENST00000403946.7:c.1393-55_1393-54insATGCTCCCACTCACACACAC	ENSP00000385255.3:n.1393-55_1393-54insATGCTCCCACTCACACACAC
NM_001287489.1:c.1393-55_1393-54insATGCTCCCACTCACACACAC	NP_001274418.1:n.1393-55_1393-54insATGCTCCCACTCACACACAC
NM_194248.2:c.1393-55_1393-54insATGCTCCCACTCACACACAC	NP_919224.1:n.1393-55_1393-54insATGCTCCCACTCACACACAC
XM_005264644.2:c.1438-55_1438-54insATGCTCCCACTCACACACAC	XP_005264701.1:n.1438-55_1438-54insATGCTCCCACTCACACACAC
XM_011533185.1:c.1438-55_1438-54insATGCTCCCACTCACACACAC	XP_011531487.1:n.1438-55_1438-54insATGCTCCCACTCACACACAC
XM_017005338.1:c.1393-55_1393-54insATGCTCCCACTCACACACAC	XP_016860827.1:n.1393-55_1393-54insATGCTCCCACTCACACACAC
NM_001287489.2:c.1393-55_1393-54insATGCTCCCACTCACACACAC	NP_001274418.1:n.1393-55_1393-54insATGCTCCCACTCACACACAC
NM_194248.3:c.1393-55_1393-54insATGCTCCCACTCACACACAC MANE Select	NP_919224.1:n.1393-55_1393-54insATGCTCCCACTCACACACAC