Canonical Allele Identifier: CA767290377

Gene: OTOF

Linked Data

• dbSNP Id: rs1434538995
• gnomAD v3: 2-26482857-ATGCATGTGTGCGTGTGTGAGTGGT-A
• gnomAD v4: 2-26482857-ATGCATGTGTGCGTGTGTGAGTGGT-A
• MyVariant Identifiers: chr2:g.26705726_26705749del (hg19) ; chr2:g.26482858_26482881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482875_26482898del , CM000664.2:g.26482875_26482898del	GRCh38
NC_000002.11:g.26705743_26705766del , CM000664.1:g.26705743_26705766del	GRCh37
NC_000002.10:g.26559247_26559270del	NCBI36
NG_009937.1:g.80818_80841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-289_1393-266del MANE Select	ENSP00000272371.2:n.1393-289_1393-266del
ENST00000272371.6:c.1393-289_1393-266del	ENSP00000272371.2:n.1393-289_1393-266del
ENST00000403946.7:c.1393-289_1393-266del	ENSP00000385255.3:n.1393-289_1393-266del
NM_001287489.1:c.1393-289_1393-266del	NP_001274418.1:n.1393-289_1393-266del
NM_194248.2:c.1393-289_1393-266del	NP_919224.1:n.1393-289_1393-266del
XM_005264644.2:c.1438-289_1438-266del	XP_005264701.1:n.1438-289_1438-266del
XM_011533185.1:c.1438-289_1438-266del	XP_011531487.1:n.1438-289_1438-266del
XM_017005338.1:c.1393-289_1393-266del	XP_016860827.1:n.1393-289_1393-266del
NM_001287489.2:c.1393-289_1393-266del	NP_001274418.1:n.1393-289_1393-266del
NM_194248.3:c.1393-289_1393-266del MANE Select	NP_919224.1:n.1393-289_1393-266del