Canonical Allele Identifier: CA2658238776

Gene: OTOF

Linked Data

• gnomAD v4: 2-26482505-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482508del , CM000664.2:g.26482508del	GRCh38
NC_000002.11:g.26705376del , CM000664.1:g.26705376del	GRCh37
NC_000002.10:g.26558880del	NCBI36
NG_009937.1:g.81193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1479del MANE Select	ENSP00000272371.2:p.Lys493AsnfsTer3
ENST00000272371.6:c.1479del	ENSP00000272371.2:p.Lys493AsnfsTer3
ENST00000403946.7:c.1479del	ENSP00000385255.3:p.Lys493AsnfsTer3
NM_001287489.1:c.1479del	NP_001274418.1:p.Lys493AsnfsTer3
NM_194248.2:c.1479del	NP_919224.1:p.Lys493AsnfsTer3
XM_005264644.2:c.1524del	XP_005264701.1:p.Lys508AsnfsTer3
XM_011533185.1:c.1524del	XP_011531487.1:p.Lys508AsnfsTer3
XM_017005338.1:c.1479del	XP_016860827.1:p.Lys493AsnfsTer3
NM_001287489.2:c.1479del	NP_001274418.1:p.Lys493AsnfsTer3
NM_194248.3:c.1479del MANE Select	NP_919224.1:p.Lys493AsnfsTer3