Canonical Allele Identifier: CA2620017129

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358879-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358880del , CM000674.2:g.80358880del	GRCh38
NC_000012.11:g.80752660del , CM000674.1:g.80752660del	GRCh37
NC_000012.10:g.79276791del	NCBI36
NG_033008.1:g.154428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6247del MANE Select	ENSP00000447211.2:p.Ile2083LeufsTer13
ENST00000642294.1:c.187del	ENSP00000493572.1:p.Ile63LeufsTer7
ENST00000646859.1:c.6112del	ENSP00000496036.1:p.Ile2038LeufsTer13
ENST00000298820.7:c.1527+105del
ENST00000458043.6:c.6220del	ENSP00000400895.2:p.Ile2074LeufsTer13
ENST00000546620.5:n.503del
ENST00000547103.5:c.6184del	ENSP00000447211.1:p.Ile2062LeufsTer13
ENST00000550182.2:c.271del	ENSP00000449641.1:p.Ile91LeufsTer13
ENST00000551340.5:c.375del
NM_173591.3:c.6220del	NP_775862.3:p.Ile2074LeufsTer13
XM_005268802.2:c.6271del	XP_005268859.1:p.Ile2091LeufsTer13
XM_011538191.1:c.6271del	XP_011536493.1:p.Ile2091LeufsTer13
XM_011538192.1:c.6118del	XP_011536494.1:p.Ile2040LeufsTer13
XM_011538193.1:c.5905del	XP_011536495.1:p.Ile1969LeufsTer13
XM_005268802.3:c.6271del	XP_005268859.1:p.Ile2091LeufsTer13
XM_011538192.2:c.6118del	XP_011536494.1:p.Ile2040LeufsTer13
NM_001368062.1:c.6085del	NP_001354991.1:p.Ile2029LeufsTer13
NM_001368062.3:c.6112del	NP_001354991.2:p.Ile2038LeufsTer13
NM_001378609.3:c.6247del MANE Select	NP_001365538.2:p.Ile2083LeufsTer13
NM_001378610.3:c.6247del	NP_001365539.2:p.Ile2083LeufsTer13
NM_173591.7:c.6247del	NP_775862.4:p.Ile2083LeufsTer13