Canonical Allele Identifier: CA2658238258

Gene: OTOF

Linked Data

• gnomAD v4: 2-26477712-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477716del , CM000664.2:g.26477716del	GRCh38
NC_000002.11:g.26700584del , CM000664.1:g.26700584del	GRCh37
NC_000002.10:g.26554088del	NCBI36
NG_009937.1:g.85986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2251del MANE Select	ENSP00000272371.2:p.Thr751ArgfsTer17
ENST00000339598.8:c.10del MANE Plus Clinical	ENSP00000344521.3:p.Thr4ArgfsTer17
ENST00000402415.8:c.10del	ENSP00000383906.4:p.Thr4ArgfsTer17
ENST00000272371.6:c.2251del	ENSP00000272371.2:p.Thr751ArgfsTer17
ENST00000338581.10:c.10del	ENSP00000345137.6:p.Thr4ArgfsTer17
ENST00000339598.7:c.10del	ENSP00000344521.3:p.Thr4ArgfsTer17
ENST00000402415.7:c.181del	ENSP00000383906.3:p.Thr61ArgfsTer17
ENST00000403946.7:c.2251del	ENSP00000385255.3:p.Thr751ArgfsTer17
NM_001287489.1:c.2251del	NP_001274418.1:p.Thr751ArgfsTer17
NM_004802.3:c.10del	NP_004793.2:p.Thr4ArgfsTer17
NM_194248.2:c.2251del	NP_919224.1:p.Thr751ArgfsTer17
NM_194322.2:c.181del	NP_919303.1:p.Thr61ArgfsTer17
NM_194323.2:c.10del	NP_919304.1:p.Thr4ArgfsTer17
XM_005264644.2:c.2296del	XP_005264701.1:p.Thr766ArgfsTer17
XM_011533185.1:c.2296del	XP_011531487.1:p.Thr766ArgfsTer17
XM_017005338.1:c.2251del	XP_016860827.1:p.Thr751ArgfsTer17
NM_001287489.2:c.2251del	NP_001274418.1:p.Thr751ArgfsTer17
NM_004802.4:c.10del	NP_004793.2:p.Thr4ArgfsTer17
NM_194248.3:c.2251del MANE Select	NP_919224.1:p.Thr751ArgfsTer17
NM_194322.3:c.181del	NP_919303.1:p.Thr61ArgfsTer17
NM_194323.3:c.10del MANE Plus Clinical	NP_919304.1:p.Thr4ArgfsTer17