Canonical Allele Identifier: CA767289365

Gene: OTOF

Linked Data

• dbSNP Id: rs1267125731
• gnomAD v3: 2-26482116-TTATCA-T
• gnomAD v4: 2-26482116-TTATCA-T
• MyVariant Identifiers: chr2:g.26704985_26704989del (hg19) ; chr2:g.26482117_26482121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482125_26482129del , CM000664.2:g.26482125_26482129del	GRCh38
NC_000002.11:g.26704993_26704997del , CM000664.1:g.26704993_26704997del	GRCh37
NC_000002.10:g.26558497_26558501del	NCBI36
NG_009937.1:g.81578_81582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1579+285_1579+289del MANE Select	ENSP00000272371.2:n.1579+285_1579+289del
ENST00000272371.6:c.1579+285_1579+289del	ENSP00000272371.2:n.1579+285_1579+289del
ENST00000403946.7:c.1579+285_1579+289del	ENSP00000385255.3:n.1579+285_1579+289del
NM_001287489.1:c.1579+285_1579+289del	NP_001274418.1:n.1579+285_1579+289del
NM_194248.2:c.1579+285_1579+289del	NP_919224.1:n.1579+285_1579+289del
XM_005264644.2:c.1624+285_1624+289del	XP_005264701.1:n.1624+285_1624+289del
XM_011533185.1:c.1624+285_1624+289del	XP_011531487.1:n.1624+285_1624+289del
XM_017005338.1:c.1579+285_1579+289del	XP_016860827.1:n.1579+285_1579+289del
NM_001287489.2:c.1579+285_1579+289del	NP_001274418.1:n.1579+285_1579+289del
NM_194248.3:c.1579+285_1579+289del MANE Select	NP_919224.1:n.1579+285_1579+289del