Canonical Allele Identifier: CA2594511662

Gene: OTOF

Linked Data

• gnomAD v3: 2-26460088-GAGGAGCAGCAGC-G
• gnomAD v4: 2-26460088-GAGGAGCAGCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460099_26460110del , CM000664.2:g.26460099_26460110del	GRCh38
NC_000002.11:g.26682967_26682978del , CM000664.1:g.26682967_26682978del	GRCh37
NC_000002.10:g.26536471_26536482del	NCBI36
NG_009937.1:g.103599_103610del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5919_5930del MANE Select	ENSP00000272371.2:p.Leu1974_Leu1977del
ENST00000339598.8:c.3512+547_3512+558del MANE Plus Clinical	ENSP00000344521.3:n.3512+547_3512+558del
ENST00000402415.8:c.3678_3689del	ENSP00000383906.4:p.Leu1227_Leu1230del
ENST00000272371.6:c.5919_5930del	ENSP00000272371.2:p.Leu1974_Leu1977del
ENST00000338581.10:c.3618_3629del	ENSP00000345137.6:p.Leu1207_Leu1210del
ENST00000339598.7:c.3512+547_3512+558del	ENSP00000344521.3:n.3512+547_3512+558del
ENST00000402415.7:c.3849_3860del	ENSP00000383906.3:p.Leu1284_Leu1287del
ENST00000403946.7:c.5813+547_5813+558del	ENSP00000385255.3:n.5813+547_5813+558del
NM_001287489.1:c.5813+547_5813+558del	NP_001274418.1:n.5813+547_5813+558del
NM_004802.3:c.3618_3629del	NP_004793.2:p.Leu1207_Leu1210del
NM_194248.2:c.5919_5930del	NP_919224.1:p.Leu1974_Leu1977del
NM_194322.2:c.3849_3860del	NP_919303.1:p.Leu1284_Leu1287del
NM_194323.2:c.3512+547_3512+558del	NP_919304.1:n.3512+547_3512+558del
XM_005264644.2:c.5798+547_5798+558del	XP_005264701.1:n.5798+547_5798+558del
XM_011533185.1:c.5858+547_5858+558del	XP_011531487.1:n.5858+547_5858+558del
XM_017005338.1:c.5859_5870del	XP_016860827.1:p.Leu1954_Leu1957del
NM_001287489.2:c.5813+547_5813+558del	NP_001274418.1:n.5813+547_5813+558del
NM_004802.4:c.3618_3629del	NP_004793.2:p.Leu1207_Leu1210del
NM_194248.3:c.5919_5930del MANE Select	NP_919224.1:p.Leu1974_Leu1977del
NM_194322.3:c.3849_3860del	NP_919303.1:p.Leu1284_Leu1287del
NM_194323.3:c.3512+547_3512+558del MANE Plus Clinical	NP_919304.1:n.3512+547_3512+558del