Canonical Allele Identifier: CA1564282

Gene: OTOF

Linked Data

• dbSNP Id: rs775557512
• ExAC: 2:26705495 ATGTGTGTGTGAGTGGGTGCATGTG / A
• gnomAD v2: 2-26705495-ATGTGTGTGTGAGTGGGTGCATGTG-A
• gnomAD v3: 2-26482627-ATGTGTGTGTGAGTGGGTGCATGTG-A
• gnomAD v4: 2-26482627-ATGTGTGTGTGAGTGGGTGCATGTG-A
• MyVariant Identifiers: chr2:g.26705496_26705519del (hg19) ; chr2:g.26482628_26482651del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482644_26482667del , CM000664.2:g.26482644_26482667del	GRCh38
NC_000002.11:g.26705512_26705535del , CM000664.1:g.26705512_26705535del	GRCh37
NC_000002.10:g.26559016_26559039del	NCBI36
NG_009937.1:g.81048_81071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-59_1393-36del MANE Select	ENSP00000272371.2:n.1393-59_1393-36del
ENST00000272371.6:c.1393-59_1393-36del	ENSP00000272371.2:n.1393-59_1393-36del
ENST00000403946.7:c.1393-59_1393-36del	ENSP00000385255.3:n.1393-59_1393-36del
NM_001287489.1:c.1393-59_1393-36del	NP_001274418.1:n.1393-59_1393-36del
NM_194248.2:c.1393-59_1393-36del	NP_919224.1:n.1393-59_1393-36del
XM_005264644.2:c.1438-59_1438-36del	XP_005264701.1:n.1438-59_1438-36del
XM_011533185.1:c.1438-59_1438-36del	XP_011531487.1:n.1438-59_1438-36del
XM_017005338.1:c.1393-59_1393-36del	XP_016860827.1:n.1393-59_1393-36del
NM_001287489.2:c.1393-59_1393-36del	NP_001274418.1:n.1393-59_1393-36del
NM_194248.3:c.1393-59_1393-36del MANE Select	NP_919224.1:n.1393-59_1393-36del