Canonical Allele Identifier: CA2575235837

Gene: OTOGL

Linked Data

• gnomAD v4: 12-80358679-C-CCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358681_80358684dup , CM000674.2:g.80358681_80358684dup	GRCh38
NC_000012.11:g.80752461_80752464dup , CM000674.1:g.80752461_80752464dup	GRCh37
NC_000012.10:g.79276592_79276595dup	NCBI36
NG_033008.1:g.154229_154232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6132_6135dup MANE Select	ENSP00000447211.2:p.Leu2046LysfsTer?
ENST00000642294.1:c.72_75dup	ENSP00000493572.1:p.Leu26LysfsTer?
ENST00000646859.1:c.5997_6000dup	ENSP00000496036.1:p.Leu2001LysfsTer?
ENST00000298820.7:c.1433_1436dup
ENST00000458043.6:c.6105_6108dup	ENSP00000400895.2:p.Leu2037LysfsTer?
ENST00000546620.5:n.388_391dup
ENST00000547103.5:c.6069_6072dup	ENSP00000447211.1:p.Leu2025LysfsTer?
ENST00000550182.2:c.156_159dup	ENSP00000449641.1:p.Leu54LysfsTer?
ENST00000551340.5:c.260_263dup
NM_173591.3:c.6105_6108dup	NP_775862.3:p.Leu2037LysfsTer?
XM_005268802.2:c.6156_6159dup	XP_005268859.1:p.Leu2054LysfsTer?
XM_011538191.1:c.6156_6159dup	XP_011536493.1:p.Leu2054LysfsTer?
XM_011538192.1:c.6003_6006dup	XP_011536494.1:p.Leu2003LysfsTer?
XM_011538193.1:c.5790_5793dup	XP_011536495.1:p.Leu1932LysfsTer?
XM_005268802.3:c.6156_6159dup	XP_005268859.1:p.Leu2054LysfsTer?
XM_011538192.2:c.6003_6006dup	XP_011536494.1:p.Leu2003LysfsTer?
NM_001368062.1:c.5970_5973dup	NP_001354991.1:p.Leu1992LysfsTer?
NM_001368062.3:c.5997_6000dup	NP_001354991.2:p.Leu2001LysfsTer?
NM_001378609.3:c.6132_6135dup MANE Select	NP_001365538.2:p.Leu2046LysfsTer?
NM_001378610.3:c.6132_6135dup	NP_001365539.2:p.Leu2046LysfsTer?
NM_173591.7:c.6132_6135dup	NP_775862.4:p.Leu2046LysfsTer?