Canonical Allele Identifier: CA531396090

Gene: OTOF

Linked Data

• dbSNP Id: rs1402946781
• gnomAD v2: 2-26705514-CATGTGT-C
• gnomAD v3: 2-26482646-CATGTGT-C
• gnomAD v4: 2-26482646-CATGTGT-C
• MyVariant Identifiers: chr2:g.26705515_26705520del (hg19) ; chr2:g.26482647_26482652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482647_26482652del , CM000664.2:g.26482647_26482652del	GRCh38
NC_000002.11:g.26705515_26705520del , CM000664.1:g.26705515_26705520del	GRCh37
NC_000002.10:g.26559019_26559024del	NCBI36
NG_009937.1:g.81047_81052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1393-60_1393-55del MANE Select	ENSP00000272371.2:n.1393-60_1393-55del
ENST00000272371.6:c.1393-60_1393-55del	ENSP00000272371.2:n.1393-60_1393-55del
ENST00000403946.7:c.1393-60_1393-55del	ENSP00000385255.3:n.1393-60_1393-55del
NM_001287489.1:c.1393-60_1393-55del	NP_001274418.1:n.1393-60_1393-55del
NM_194248.2:c.1393-60_1393-55del	NP_919224.1:n.1393-60_1393-55del
XM_005264644.2:c.1438-60_1438-55del	XP_005264701.1:n.1438-60_1438-55del
XM_011533185.1:c.1438-60_1438-55del	XP_011531487.1:n.1438-60_1438-55del
XM_017005338.1:c.1393-60_1393-55del	XP_016860827.1:n.1393-60_1393-55del
NM_001287489.2:c.1393-60_1393-55del	NP_001274418.1:n.1393-60_1393-55del
NM_194248.3:c.1393-60_1393-55del MANE Select	NP_919224.1:n.1393-60_1393-55del