Canonical Allele Identifier: CA531396177

Gene: OTOF

Linked Data

• dbSNP Id: rs1436314849
• gnomAD v2: 2-26705696-C-CACGG
• gnomAD v3: 2-26482828-C-CACGG
• gnomAD v4: 2-26482828-C-CACGG
• MyVariant Identifiers: chr2:g.26705696_26705697insACGG (hg19) ; chr2:g.26482828_26482829insACGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482828_26482829insACGG , CM000664.2:g.26482828_26482829insACGG	GRCh38
NC_000002.11:g.26705696_26705697insACGG , CM000664.1:g.26705696_26705697insACGG	GRCh37
NC_000002.10:g.26559200_26559201insACGG	NCBI36
NG_009937.1:g.80870_80871insCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-237_1393-236insCCGT MANE Select	ENSP00000272371.2:n.1393-237_1393-236insCCGT
ENST00000272371.6:c.1393-237_1393-236insCCGT	ENSP00000272371.2:n.1393-237_1393-236insCCGT
ENST00000403946.7:c.1393-237_1393-236insCCGT	ENSP00000385255.3:n.1393-237_1393-236insCCGT
NM_001287489.1:c.1393-237_1393-236insCCGT	NP_001274418.1:n.1393-237_1393-236insCCGT
NM_194248.2:c.1393-237_1393-236insCCGT	NP_919224.1:n.1393-237_1393-236insCCGT
XM_005264644.2:c.1438-237_1438-236insCCGT	XP_005264701.1:n.1438-237_1438-236insCCGT
XM_011533185.1:c.1438-237_1438-236insCCGT	XP_011531487.1:n.1438-237_1438-236insCCGT
XM_017005338.1:c.1393-237_1393-236insCCGT	XP_016860827.1:n.1393-237_1393-236insCCGT
NM_001287489.2:c.1393-237_1393-236insCCGT	NP_001274418.1:n.1393-237_1393-236insCCGT
NM_194248.3:c.1393-237_1393-236insCCGT MANE Select	NP_919224.1:n.1393-237_1393-236insCCGT