Canonical Allele Identifier: CA1239817774

Gene: OTOF

Linked Data

• dbSNP Id: rs3215308
• gnomAD v3: 2-26467044-TGGGGGG-T
• gnomAD v4: 2-26467044-TGGGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467047_26467052del , CM000664.2:g.26467047_26467052del	GRCh38
NC_000002.11:g.26689915_26689920del , CM000664.1:g.26689915_26689920del	GRCh37
NC_000002.10:g.26543419_26543424del	NCBI36
NG_009937.1:g.96649_96654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4362+49_4362+54del MANE Select	ENSP00000272371.2:n.4362+49_4362+54del
ENST00000339598.8:c.2061+49_2061+54del MANE Plus Clinical	ENSP00000344521.3:n.2061+49_2061+54del
ENST00000402415.8:c.2121+49_2121+54del	ENSP00000383906.4:n.2121+49_2121+54del
ENST00000272371.6:c.4362+49_4362+54del	ENSP00000272371.2:n.4362+49_4362+54del
ENST00000338581.10:c.2061+49_2061+54del	ENSP00000345137.6:n.2061+49_2061+54del
ENST00000339598.7:c.2061+49_2061+54del	ENSP00000344521.3:n.2061+49_2061+54del
ENST00000402415.7:c.2292+49_2292+54del	ENSP00000383906.3:n.2292+49_2292+54del
ENST00000403946.7:c.4362+49_4362+54del	ENSP00000385255.3:n.4362+49_4362+54del
NM_001287489.1:c.4362+49_4362+54del	NP_001274418.1:n.4362+49_4362+54del
NM_004802.3:c.2061+49_2061+54del	NP_004793.2:n.2061+49_2061+54del
NM_194248.2:c.4362+49_4362+54del	NP_919224.1:n.4362+49_4362+54del
NM_194322.2:c.2292+49_2292+54del	NP_919303.1:n.2292+49_2292+54del
NM_194323.2:c.2061+49_2061+54del	NP_919304.1:n.2061+49_2061+54del
XM_005264644.2:c.4347+49_4347+54del	XP_005264701.1:n.4347+49_4347+54del
XM_011533185.1:c.4407+49_4407+54del	XP_011531487.1:n.4407+49_4407+54del
XM_017005338.1:c.4302+49_4302+54del	XP_016860827.1:n.4302+49_4302+54del
NM_001287489.2:c.4362+49_4362+54del	NP_001274418.1:n.4362+49_4362+54del
NM_004802.4:c.2061+49_2061+54del	NP_004793.2:n.2061+49_2061+54del
NM_194248.3:c.4362+49_4362+54del MANE Select	NP_919224.1:n.4362+49_4362+54del
NM_194322.3:c.2292+49_2292+54del	NP_919303.1:n.2292+49_2292+54del
NM_194323.3:c.2061+49_2061+54del MANE Plus Clinical	NP_919304.1:n.2061+49_2061+54del