Canonical Allele Identifier: CA767290010

Gene: OTOF

Linked Data

• dbSNP Id: rs1229269762
• gnomAD v3: 2-26482646-C-CAT
• gnomAD v4: 2-26482646-C-CAT
• MyVariant Identifiers: chr2:g.26705514_26705515insAT (hg19) ; chr2:g.26482646_26482647insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482647_26482648dup , CM000664.2:g.26482647_26482648dup	GRCh38
NC_000002.11:g.26705515_26705516dup , CM000664.1:g.26705515_26705516dup	GRCh37
NC_000002.10:g.26559019_26559020dup	NCBI36
NG_009937.1:g.81051_81052dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-56_1393-55dup MANE Select	ENSP00000272371.2:n.1393-56_1393-55dup
ENST00000272371.6:c.1393-56_1393-55dup	ENSP00000272371.2:n.1393-56_1393-55dup
ENST00000403946.7:c.1393-56_1393-55dup	ENSP00000385255.3:n.1393-56_1393-55dup
NM_001287489.1:c.1393-56_1393-55dup	NP_001274418.1:n.1393-56_1393-55dup
NM_194248.2:c.1393-56_1393-55dup	NP_919224.1:n.1393-56_1393-55dup
XM_005264644.2:c.1438-56_1438-55dup	XP_005264701.1:n.1438-56_1438-55dup
XM_011533185.1:c.1438-56_1438-55dup	XP_011531487.1:n.1438-56_1438-55dup
XM_017005338.1:c.1393-56_1393-55dup	XP_016860827.1:n.1393-56_1393-55dup
NM_001287489.2:c.1393-56_1393-55dup	NP_001274418.1:n.1393-56_1393-55dup
NM_194248.3:c.1393-56_1393-55dup MANE Select	NP_919224.1:n.1393-56_1393-55dup