Canonical Allele Identifier: CA2505125104

Gene: OTOGL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80358863_80358864insGCA , CM000674.2:g.80358863_80358864insGCA	GRCh38
NC_000012.11:g.80752643_80752644insGCA , CM000674.1:g.80752643_80752644insGCA	GRCh37
NC_000012.10:g.79276774_79276775insGCA	NCBI36
NG_033008.1:g.154411_154412insGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547103.7:c.6230_6231insGCA MANE Select	ENSP00000447211.2:p.Cys2077delinsTrpHis
ENST00000642294.1:c.170_171insGCA	ENSP00000493572.1:p.Cys57delinsTrpHis
ENST00000646859.1:c.6095_6096insGCA	ENSP00000496036.1:p.Cys2032delinsTrpHis
ENST00000298820.7:c.1527+88_1527+89insGCA
ENST00000458043.6:c.6203_6204insGCA	ENSP00000400895.2:p.Cys2068delinsTrpHis
ENST00000546620.5:n.486_487insGCA
ENST00000547103.5:c.6167_6168insGCA	ENSP00000447211.1:p.Cys2056delinsTrpHis
ENST00000550182.2:c.254_255insGCA	ENSP00000449641.1:p.Cys85delinsTrpHis
ENST00000551340.5:c.358_359insGCA
NM_173591.3:c.6203_6204insGCA	NP_775862.3:p.Cys2068delinsTrpHis
XM_005268802.2:c.6254_6255insGCA	XP_005268859.1:p.Cys2085delinsTrpHis
XM_011538191.1:c.6254_6255insGCA	XP_011536493.1:p.Cys2085delinsTrpHis
XM_011538192.1:c.6101_6102insGCA	XP_011536494.1:p.Cys2034delinsTrpHis
XM_011538193.1:c.5888_5889insGCA	XP_011536495.1:p.Cys1963delinsTrpHis
XM_005268802.3:c.6254_6255insGCA	XP_005268859.1:p.Cys2085delinsTrpHis
XM_011538192.2:c.6101_6102insGCA	XP_011536494.1:p.Cys2034delinsTrpHis
NM_001368062.1:c.6068_6069insGCA	NP_001354991.1:p.Cys2023delinsTrpHis
NM_001368062.3:c.6095_6096insGCA	NP_001354991.2:p.Cys2032delinsTrpHis
NM_001378609.3:c.6230_6231insGCA MANE Select	NP_001365538.2:p.Cys2077delinsTrpHis
NM_001378610.3:c.6230_6231insGCA	NP_001365539.2:p.Cys2077delinsTrpHis
NM_173591.7:c.6230_6231insGCA	NP_775862.4:p.Cys2077delinsTrpHis