Canonical Allele Identifier: CA767289985

Gene: OTOF

Linked Data

• dbSNP Id: rs1491021421
• gnomAD v3: 2-26482628-T-TGTGTGTGTGAGTGGGTGC
• gnomAD v4: 2-26482628-T-TGTGTGTGTGAGTGGGTGC
• MyVariant Identifiers: chr2:g.26705496_26705497insGTGTGTGTGAGTGGGTGC (hg19) ; chr2:g.26482628_26482629insGTGTGTGTGAGTGGGTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482629_26482646dup , CM000664.2:g.26482629_26482646dup	GRCh38
NC_000002.11:g.26705497_26705514dup , CM000664.1:g.26705497_26705514dup	GRCh37
NC_000002.10:g.26559001_26559018dup	NCBI36
NG_009937.1:g.81053_81070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-54_1393-37dup MANE Select	ENSP00000272371.2:n.1393-54_1393-37dup
ENST00000272371.6:c.1393-54_1393-37dup	ENSP00000272371.2:n.1393-54_1393-37dup
ENST00000403946.7:c.1393-54_1393-37dup	ENSP00000385255.3:n.1393-54_1393-37dup
NM_001287489.1:c.1393-54_1393-37dup	NP_001274418.1:n.1393-54_1393-37dup
NM_194248.2:c.1393-54_1393-37dup	NP_919224.1:n.1393-54_1393-37dup
XM_005264644.2:c.1438-54_1438-37dup	XP_005264701.1:n.1438-54_1438-37dup
XM_011533185.1:c.1438-54_1438-37dup	XP_011531487.1:n.1438-54_1438-37dup
XM_017005338.1:c.1393-54_1393-37dup	XP_016860827.1:n.1393-54_1393-37dup
NM_001287489.2:c.1393-54_1393-37dup	NP_001274418.1:n.1393-54_1393-37dup
NM_194248.3:c.1393-54_1393-37dup MANE Select	NP_919224.1:n.1393-54_1393-37dup