Canonical Allele Identifier: CA1239830313

Gene: OTOF

Linked Data

• dbSNP Id: rs1665618885
• gnomAD v4: 2-26483474-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26483479_26483481del , CM000664.2:g.26483479_26483481del	GRCh38
NC_000002.11:g.26706347_26706349del , CM000664.1:g.26706347_26706349del	GRCh37
NC_000002.10:g.26559851_26559853del	NCBI36
NG_009937.1:g.80222_80224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1377_1379del MANE Select	ENSP00000272371.2:p.Phe460del
ENST00000272371.6:c.1377_1379del	ENSP00000272371.2:p.Phe460del
ENST00000403946.7:c.1377_1379del	ENSP00000385255.3:p.Phe460del
NM_001287489.1:c.1377_1379del	NP_001274418.1:p.Phe460del
NM_194248.2:c.1377_1379del	NP_919224.1:p.Phe460del
XM_005264644.2:c.1422_1424del	XP_005264701.1:p.Phe475del
XM_011533185.1:c.1422_1424del	XP_011531487.1:p.Phe475del
XM_017005338.1:c.1377_1379del	XP_016860827.1:p.Phe460del
NM_001287489.2:c.1377_1379del	NP_001274418.1:p.Phe460del
NM_194248.3:c.1377_1379del MANE Select	NP_919224.1:p.Phe460del