Canonical Allele Identifier: CA1239824005

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460081_26460084delinsCGAG , CM000664.2:g.26460081_26460084delinsCGAG	GRCh38
NC_000002.11:g.26682949_26682952delinsCGAG , CM000664.1:g.26682949_26682952delinsCGAG	GRCh37
NC_000002.10:g.26536453_26536456delinsCGAG	NCBI36
NG_009937.1:g.103615_103618delinsCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5935_5938delinsCTCG MANE Select	ENSP00000272371.2:p.Leu1979=
ENST00000339598.8:c.3512+563_3512+566delinsCTCG MANE Plus Clinical	ENSP00000344521.3:n.3512+563_3512+566delinsCTCG
ENST00000402415.8:c.3694_3697delinsCTCG	ENSP00000383906.4:p.Leu1232=
ENST00000272371.6:c.5935_5938delinsCTCG	ENSP00000272371.2:p.Leu1979=
ENST00000338581.10:c.3634_3637delinsCTCG	ENSP00000345137.6:p.Leu1212=
ENST00000339598.7:c.3512+563_3512+566delinsCTCG	ENSP00000344521.3:n.3512+563_3512+566delinsCTCG
ENST00000402415.7:c.3865_3868delinsCTCG	ENSP00000383906.3:p.Leu1289=
ENST00000403946.7:c.5813+563_5813+566delinsCTCG	ENSP00000385255.3:n.5813+563_5813+566delinsCTCG
NM_001287489.1:c.5813+563_5813+566delinsCTCG	NP_001274418.1:n.5813+563_5813+566delinsCTCG
NM_004802.3:c.3634_3637delinsCTCG	NP_004793.2:p.Leu1212=
NM_194248.2:c.5935_5938delinsCTCG	NP_919224.1:p.Leu1979=
NM_194322.2:c.3865_3868delinsCTCG	NP_919303.1:p.Leu1289=
NM_194323.2:c.3512+563_3512+566delinsCTCG	NP_919304.1:n.3512+563_3512+566delinsCTCG
XM_005264644.2:c.5798+563_5798+566delinsCTCG	XP_005264701.1:n.5798+563_5798+566delinsCTCG
XM_011533185.1:c.5858+563_5858+566delinsCTCG	XP_011531487.1:n.5858+563_5858+566delinsCTCG
XM_017005338.1:c.5875_5878delinsCTCG	XP_016860827.1:p.Leu1959=
NM_001287489.2:c.5813+563_5813+566delinsCTCG	NP_001274418.1:n.5813+563_5813+566delinsCTCG
NM_004802.4:c.3634_3637delinsCTCG	NP_004793.2:p.Leu1212=
NM_194248.3:c.5935_5938delinsCTCG MANE Select	NP_919224.1:p.Leu1979=
NM_194322.3:c.3865_3868delinsCTCG	NP_919303.1:p.Leu1289=
NM_194323.3:c.3512+563_3512+566delinsCTCG MANE Plus Clinical	NP_919304.1:n.3512+563_3512+566delinsCTCG