Canonical Allele Identifier: CA1028610806

Gene: OTOF

Linked Data

• dbSNP Id: rs1665586791
• gnomAD v3: 2-26482833-G-GTGGGTGCATGTGTGCGTGAT
• gnomAD v4: 2-26482833-G-GTGGGTGCATGTGTGCGTGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482852_26482853insTTGGGTGCATGTGTGCGTGA , CM000664.2:g.26482852_26482853insTTGGGTGCATGTGTGCGTGA	GRCh38
NC_000002.11:g.26705720_26705721insTTGGGTGCATGTGTGCGTGA , CM000664.1:g.26705720_26705721insTTGGGTGCATGTGTGCGTGA	GRCh37
NC_000002.10:g.26559224_26559225insTTGGGTGCATGTGTGCGTGA	NCBI36
NG_009937.1:g.80865_80866insATCACGCACACATGCACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-242_1393-241insATCACGCACACATGCACCCA MANE Select	ENSP00000272371.2:n.1393-242_1393-241insATCACGCACACATGCACCCA
ENST00000272371.6:c.1393-242_1393-241insATCACGCACACATGCACCCA	ENSP00000272371.2:n.1393-242_1393-241insATCACGCACACATGCACCCA
ENST00000403946.7:c.1393-242_1393-241insATCACGCACACATGCACCCA	ENSP00000385255.3:n.1393-242_1393-241insATCACGCACACATGCACCCA
NM_001287489.1:c.1393-242_1393-241insATCACGCACACATGCACCCA	NP_001274418.1:n.1393-242_1393-241insATCACGCACACATGCACCCA
NM_194248.2:c.1393-242_1393-241insATCACGCACACATGCACCCA	NP_919224.1:n.1393-242_1393-241insATCACGCACACATGCACCCA
XM_005264644.2:c.1438-242_1438-241insATCACGCACACATGCACCCA	XP_005264701.1:n.1438-242_1438-241insATCACGCACACATGCACCCA
XM_011533185.1:c.1438-242_1438-241insATCACGCACACATGCACCCA	XP_011531487.1:n.1438-242_1438-241insATCACGCACACATGCACCCA
XM_017005338.1:c.1393-242_1393-241insATCACGCACACATGCACCCA	XP_016860827.1:n.1393-242_1393-241insATCACGCACACATGCACCCA
NM_001287489.2:c.1393-242_1393-241insATCACGCACACATGCACCCA	NP_001274418.1:n.1393-242_1393-241insATCACGCACACATGCACCCA
NM_194248.3:c.1393-242_1393-241insATCACGCACACATGCACCCA MANE Select	NP_919224.1:n.1393-242_1393-241insATCACGCACACATGCACCCA