Canonical Allele Identifier: CA531761723

Gene: OTOF

Linked Data

• dbSNP Id: rs1410269438
• gnomAD v2: 2-26690064-AAGT-A
• gnomAD v4: 2-26467196-AAGT-A
• MyVariant Identifiers: chr2:g.26690065_26690067del (hg19) ; chr2:g.26467197_26467199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467197_26467199del , CM000664.2:g.26467197_26467199del	GRCh38
NC_000002.11:g.26690065_26690067del , CM000664.1:g.26690065_26690067del	GRCh37
NC_000002.10:g.26543569_26543571del	NCBI36
NG_009937.1:g.96500_96502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4262_4264del MANE Select	ENSP00000272371.2:p.Asn1421_Phe1422delinsIle
ENST00000339598.8:c.1961_1963del MANE Plus Clinical	ENSP00000344521.3:p.Asn654_Phe655delinsIle
ENST00000402415.8:c.2021_2023del	ENSP00000383906.4:p.Asn674_Phe675delinsIle
ENST00000272371.6:c.4262_4264del	ENSP00000272371.2:p.Asn1421_Phe1422delinsIle
ENST00000338581.10:c.1961_1963del	ENSP00000345137.6:p.Asn654_Phe655delinsIle
ENST00000339598.7:c.1961_1963del	ENSP00000344521.3:p.Asn654_Phe655delinsIle
ENST00000402415.7:c.2192_2194del	ENSP00000383906.3:p.Asn731_Phe732delinsIle
ENST00000403946.7:c.4262_4264del	ENSP00000385255.3:p.Asn1421_Phe1422delinsIle
NM_001287489.1:c.4262_4264del	NP_001274418.1:p.Asn1421_Phe1422delinsIle
NM_004802.3:c.1961_1963del	NP_004793.2:p.Asn654_Phe655delinsIle
NM_194248.2:c.4262_4264del	NP_919224.1:p.Asn1421_Phe1422delinsIle
NM_194322.2:c.2192_2194del	NP_919303.1:p.Asn731_Phe732delinsIle
NM_194323.2:c.1961_1963del	NP_919304.1:p.Asn654_Phe655delinsIle
XM_005264644.2:c.4247_4249del	XP_005264701.1:p.Asn1416_Phe1417delinsIle
XM_011533185.1:c.4307_4309del	XP_011531487.1:p.Asn1436_Phe1437delinsIle
XM_017005338.1:c.4202_4204del	XP_016860827.1:p.Asn1401_Phe1402delinsIle
NM_001287489.2:c.4262_4264del	NP_001274418.1:p.Asn1421_Phe1422delinsIle
NM_004802.4:c.1961_1963del	NP_004793.2:p.Asn654_Phe655delinsIle
NM_194248.3:c.4262_4264del MANE Select	NP_919224.1:p.Asn1421_Phe1422delinsIle
NM_194322.3:c.2192_2194del	NP_919303.1:p.Asn731_Phe732delinsIle
NM_194323.3:c.1961_1963del MANE Plus Clinical	NP_919304.1:p.Asn654_Phe655delinsIle