Canonical Allele Identifier: CA1239824037

Gene: OTOF

Linked Data

• dbSNP Id: rs1664389471
• gnomAD v4: 2-26460110-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460112_26460113del , CM000664.2:g.26460112_26460113del	GRCh38
NC_000002.11:g.26682980_26682981del , CM000664.1:g.26682980_26682981del	GRCh37
NC_000002.10:g.26536484_26536485del	NCBI36
NG_009937.1:g.103587_103588del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5907_5908del MANE Select	ENSP00000272371.2:p.Leu1970AlafsTer?
ENST00000339598.8:c.3512+535_3512+536del MANE Plus Clinical	ENSP00000344521.3:n.3512+535_3512+536del
ENST00000402415.8:c.3666_3667del	ENSP00000383906.4:p.Leu1223AlafsTer?
ENST00000272371.6:c.5907_5908del	ENSP00000272371.2:p.Leu1970AlafsTer?
ENST00000338581.10:c.3606_3607del	ENSP00000345137.6:p.Leu1203AlafsTer?
ENST00000339598.7:c.3512+535_3512+536del	ENSP00000344521.3:n.3512+535_3512+536del
ENST00000402415.7:c.3837_3838del	ENSP00000383906.3:p.Leu1280AlafsTer?
ENST00000403946.7:c.5813+535_5813+536del	ENSP00000385255.3:n.5813+535_5813+536del
NM_001287489.1:c.5813+535_5813+536del	NP_001274418.1:n.5813+535_5813+536del
NM_004802.3:c.3606_3607del	NP_004793.2:p.Leu1203AlafsTer?
NM_194248.2:c.5907_5908del	NP_919224.1:p.Leu1970AlafsTer?
NM_194322.2:c.3837_3838del	NP_919303.1:p.Leu1280AlafsTer?
NM_194323.2:c.3512+535_3512+536del	NP_919304.1:n.3512+535_3512+536del
XM_005264644.2:c.5798+535_5798+536del	XP_005264701.1:n.5798+535_5798+536del
XM_011533185.1:c.5858+535_5858+536del	XP_011531487.1:n.5858+535_5858+536del
XM_017005338.1:c.5847_5848del	XP_016860827.1:p.Leu1950AlafsTer?
NM_001287489.2:c.5813+535_5813+536del	NP_001274418.1:n.5813+535_5813+536del
NM_004802.4:c.3606_3607del	NP_004793.2:p.Leu1203AlafsTer?
NM_194248.3:c.5907_5908del MANE Select	NP_919224.1:p.Leu1970AlafsTer?
NM_194322.3:c.3837_3838del	NP_919303.1:p.Leu1280AlafsTer?
NM_194323.3:c.3512+535_3512+536del MANE Plus Clinical	NP_919304.1:n.3512+535_3512+536del