Canonical Allele Identifier: CA1239829171

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482575_26482588delinsCTGCACTGAAGTCT , CM000664.2:g.26482575_26482588delinsCTGCACTGAAGTCT	GRCh38
NC_000002.11:g.26705443_26705456delinsCTGCACTGAAGTCT , CM000664.1:g.26705443_26705456delinsCTGCACTGAAGTCT	GRCh37
NC_000002.10:g.26558947_26558960delinsCTGCACTGAAGTCT	NCBI36
NG_009937.1:g.81111_81124delinsAGACTTCAGTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1397_1410delinsAGACTTCAGTGCAG MANE Select	ENSP00000272371.2:p.Lys466=
ENST00000272371.6:c.1397_1410delinsAGACTTCAGTGCAG	ENSP00000272371.2:p.Lys466=
ENST00000403946.7:c.1397_1410delinsAGACTTCAGTGCAG	ENSP00000385255.3:p.Lys466=
NM_001287489.1:c.1397_1410delinsAGACTTCAGTGCAG	NP_001274418.1:p.Lys466=
NM_194248.2:c.1397_1410delinsAGACTTCAGTGCAG	NP_919224.1:p.Lys466=
XM_005264644.2:c.1442_1455delinsAGACTTCAGTGCAG	XP_005264701.1:p.Lys481=
XM_011533185.1:c.1442_1455delinsAGACTTCAGTGCAG	XP_011531487.1:p.Lys481=
XM_017005338.1:c.1397_1410delinsAGACTTCAGTGCAG	XP_016860827.1:p.Lys466=
NM_001287489.2:c.1397_1410delinsAGACTTCAGTGCAG	NP_001274418.1:p.Lys466=
NM_194248.3:c.1397_1410delinsAGACTTCAGTGCAG MANE Select	NP_919224.1:p.Lys466=