Canonical Allele Identifier: CA531761910

Gene: OTOF

Linked Data

• gnomAD v2: 2-26700487-T-TC
• gnomAD v4: 2-26477619-T-TC
• MyVariant Identifiers: chr2:g.26700488_26700489insC (hg19) ; chr2:g.26477620_26477621insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477625dup , CM000664.2:g.26477625dup	GRCh38
NC_000002.11:g.26700493dup , CM000664.1:g.26700493dup	GRCh37
NC_000002.10:g.26553997dup	NCBI36
NG_009937.1:g.86079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2315+29dup MANE Select	ENSP00000272371.2:n.2315+29dup
ENST00000339598.8:c.74+29dup MANE Plus Clinical	ENSP00000344521.3:n.74+29dup
ENST00000402415.8:c.74+29dup	ENSP00000383906.4:n.74+29dup
ENST00000272371.6:c.2315+29dup	ENSP00000272371.2:n.2315+29dup
ENST00000338581.10:c.74+29dup	ENSP00000345137.6:n.74+29dup
ENST00000339598.7:c.74+29dup	ENSP00000344521.3:n.74+29dup
ENST00000402415.7:c.245+29dup	ENSP00000383906.3:n.245+29dup
ENST00000403946.7:c.2315+29dup	ENSP00000385255.3:n.2315+29dup
NM_001287489.1:c.2315+29dup	NP_001274418.1:n.2315+29dup
NM_004802.3:c.74+29dup	NP_004793.2:n.74+29dup
NM_194248.2:c.2315+29dup	NP_919224.1:n.2315+29dup
NM_194322.2:c.245+29dup	NP_919303.1:n.245+29dup
NM_194323.2:c.74+29dup	NP_919304.1:n.74+29dup
XM_005264644.2:c.2360+29dup	XP_005264701.1:n.2360+29dup
XM_011533185.1:c.2360+29dup	XP_011531487.1:n.2360+29dup
XM_017005338.1:c.2315+29dup	XP_016860827.1:n.2315+29dup
NM_001287489.2:c.2315+29dup	NP_001274418.1:n.2315+29dup
NM_004802.4:c.74+29dup	NP_004793.2:n.74+29dup
NM_194248.3:c.2315+29dup MANE Select	NP_919224.1:n.2315+29dup
NM_194322.3:c.245+29dup	NP_919303.1:n.245+29dup
NM_194323.3:c.74+29dup MANE Plus Clinical	NP_919304.1:n.74+29dup