Canonical Allele Identifier: CA767289429

Gene: OTOF

Linked Data

• dbSNP Id: rs1333179186
• gnomAD v3: 2-26482254-T-TGA
• gnomAD v4: 2-26482254-T-TGA
• MyVariant Identifiers: chr2:g.26705122_26705123insGA (hg19) ; chr2:g.26482254_26482255insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482256_26482257dup , CM000664.2:g.26482256_26482257dup	GRCh38
NC_000002.11:g.26705124_26705125dup , CM000664.1:g.26705124_26705125dup	GRCh37
NC_000002.10:g.26558628_26558629dup	NCBI36
NG_009937.1:g.81443_81444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1579+150_1579+151dup MANE Select	ENSP00000272371.2:n.1579+150_1579+151dup
ENST00000272371.6:c.1579+150_1579+151dup	ENSP00000272371.2:n.1579+150_1579+151dup
ENST00000403946.7:c.1579+150_1579+151dup	ENSP00000385255.3:n.1579+150_1579+151dup
NM_001287489.1:c.1579+150_1579+151dup	NP_001274418.1:n.1579+150_1579+151dup
NM_194248.2:c.1579+150_1579+151dup	NP_919224.1:n.1579+150_1579+151dup
XM_005264644.2:c.1624+150_1624+151dup	XP_005264701.1:n.1624+150_1624+151dup
XM_011533185.1:c.1624+150_1624+151dup	XP_011531487.1:n.1624+150_1624+151dup
XM_017005338.1:c.1579+150_1579+151dup	XP_016860827.1:n.1579+150_1579+151dup
NM_001287489.2:c.1579+150_1579+151dup	NP_001274418.1:n.1579+150_1579+151dup
NM_194248.3:c.1579+150_1579+151dup MANE Select	NP_919224.1:n.1579+150_1579+151dup