Canonical Allele Identifier: CA2547704669

Gene: OTOGL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358745_80358747del , CM000674.2:g.80358745_80358747del	GRCh38
NC_000012.11:g.80752525_80752527del , CM000674.1:g.80752525_80752527del	GRCh37
NC_000012.10:g.79276656_79276658del	NCBI36
NG_033008.1:g.154293_154295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6196_6198del MANE Select	ENSP00000447211.2:p.Ser2066del
ENST00000642294.1:c.136_138del	ENSP00000493572.1:p.Ser46del
ENST00000646859.1:c.6061_6063del	ENSP00000496036.1:p.Ser2021del
ENST00000298820.7:c.1497_1499del
ENST00000458043.6:c.6169_6171del	ENSP00000400895.2:p.Ser2057del
ENST00000546620.5:n.452_454del
ENST00000547103.5:c.6133_6135del	ENSP00000447211.1:p.Ser2045del
ENST00000550182.2:c.220_222del	ENSP00000449641.1:p.Ser74del
ENST00000551340.5:c.324_326del
NM_173591.3:c.6169_6171del	NP_775862.3:p.Ser2057del
XM_005268802.2:c.6220_6222del	XP_005268859.1:p.Ser2074del
XM_011538191.1:c.6220_6222del	XP_011536493.1:p.Ser2074del
XM_011538192.1:c.6067_6069del	XP_011536494.1:p.Ser2023del
XM_011538193.1:c.5854_5856del	XP_011536495.1:p.Ser1952del
XM_005268802.3:c.6220_6222del	XP_005268859.1:p.Ser2074del
XM_011538192.2:c.6067_6069del	XP_011536494.1:p.Ser2023del
NM_001368062.1:c.6034_6036del	NP_001354991.1:p.Ser2012del
NM_001368062.3:c.6061_6063del	NP_001354991.2:p.Ser2021del
NM_001378609.3:c.6196_6198del MANE Select	NP_001365538.2:p.Ser2066del
NM_001378610.3:c.6196_6198del	NP_001365539.2:p.Ser2066del
NM_173591.7:c.6196_6198del	NP_775862.4:p.Ser2066del