Canonical Allele Identifier: CA531396173

Gene: OTOF

Linked Data

• dbSNP Id: rs1558490990
• gnomAD v2: 2-26705677-A-ATGAGTGGGTGCATGTGTGCG
• gnomAD v3: 2-26482809-A-ATGAGTGGGTGCATGTGTGCG
• gnomAD v4: 2-26482809-A-ATGAGTGGGTGCATGTGTGCG
• MyVariant Identifiers: chr2:g.26705697_26705698insTGAGTGGGTGCATGTGTGCG (hg19) ; chr2:g.26482829_26482830insTGAGTGGGTGCATGTGTGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482837_26482856dup , CM000664.2:g.26482837_26482856dup	GRCh38
NC_000002.11:g.26705705_26705724dup , CM000664.1:g.26705705_26705724dup	GRCh37
NC_000002.10:g.26559209_26559228dup	NCBI36
NG_009937.1:g.80870_80889dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-237_1393-218dup MANE Select	ENSP00000272371.2:n.1393-237_1393-218dup
ENST00000272371.6:c.1393-237_1393-218dup	ENSP00000272371.2:n.1393-237_1393-218dup
ENST00000403946.7:c.1393-237_1393-218dup	ENSP00000385255.3:n.1393-237_1393-218dup
NM_001287489.1:c.1393-237_1393-218dup	NP_001274418.1:n.1393-237_1393-218dup
NM_194248.2:c.1393-237_1393-218dup	NP_919224.1:n.1393-237_1393-218dup
XM_005264644.2:c.1438-237_1438-218dup	XP_005264701.1:n.1438-237_1438-218dup
XM_011533185.1:c.1438-237_1438-218dup	XP_011531487.1:n.1438-237_1438-218dup
XM_017005338.1:c.1393-237_1393-218dup	XP_016860827.1:n.1393-237_1393-218dup
NM_001287489.2:c.1393-237_1393-218dup	NP_001274418.1:n.1393-237_1393-218dup
NM_194248.3:c.1393-237_1393-218dup MANE Select	NP_919224.1:n.1393-237_1393-218dup