Canonical Allele Identifier: CA1028610774

Gene: OTOF

Linked Data

• dbSNP Id: rs1665586353
• gnomAD v3: 2-26482828-CGTGAGTGGGTGCATGTGTGCGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGTTGCATGTGTGCGTGTGTTAATGGGTGCATGTGTGCGTGTGAGTGGGTGCATGTATGTATTCGTGGGTGCATGTGTGCACGTGTGAGTGGGTATGCGTGCGTGT-C
• gnomAD v4: 2-26482828-CGTGAGTGGGTGCATGTGTGCGTGAGTGGATGCATGTGTGCGTGTGTGAGTGGTTGCATGTGTGCGTGTGTTAATGGGTGCATGTGTGCGTGTGAGTGGGTGCATGTATGTATTCGTGGGTGCATGTGTGCACGTGTGAGTGGGTATGCGTGCGTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482849_26483004del , CM000664.2:g.26482849_26483004del	GRCh38
NC_000002.11:g.26705717_26705872del , CM000664.1:g.26705717_26705872del	GRCh37
NC_000002.10:g.26559221_26559376del	NCBI36
NG_009937.1:g.80715_80870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-392_1393-237del MANE Select	ENSP00000272371.2:n.1393-392_1393-237del
ENST00000272371.6:c.1393-392_1393-237del	ENSP00000272371.2:n.1393-392_1393-237del
ENST00000403946.7:c.1393-392_1393-237del	ENSP00000385255.3:n.1393-392_1393-237del
NM_001287489.1:c.1393-392_1393-237del	NP_001274418.1:n.1393-392_1393-237del
NM_194248.2:c.1393-392_1393-237del	NP_919224.1:n.1393-392_1393-237del
XM_005264644.2:c.1438-392_1438-237del	XP_005264701.1:n.1438-392_1438-237del
XM_011533185.1:c.1438-392_1438-237del	XP_011531487.1:n.1438-392_1438-237del
XM_017005338.1:c.1393-392_1393-237del	XP_016860827.1:n.1393-392_1393-237del
NM_001287489.2:c.1393-392_1393-237del	NP_001274418.1:n.1393-392_1393-237del
NM_194248.3:c.1393-392_1393-237del MANE Select	NP_919224.1:n.1393-392_1393-237del