Canonical Allele Identifier: CA2551661409
Gene: OTOGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358877_80358879del , CM000674.2:g.80358877_80358879del GRCh38
NC_000012.11:g.80752657_80752659del , CM000674.1:g.80752657_80752659del GRCh37
NC_000012.10:g.79276788_79276790del NCBI36
NG_033008.1:g.154425_154427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6244_6246del MANE Select ENSP00000447211.2:p.Leu2082del
ENST00000642294.1:c.184_186del ENSP00000493572.1:p.Leu62del
ENST00000646859.1:c.6109_6111del ENSP00000496036.1:p.Leu2037del
ENST00000298820.7:c.1527+102_1527+104del
ENST00000458043.6:c.6217_6219del ENSP00000400895.2:p.Leu2073del
ENST00000546620.5:n.500_502del
ENST00000547103.5:c.6181_6183del ENSP00000447211.1:p.Leu2061del
ENST00000550182.2:c.268_270del ENSP00000449641.1:p.Leu90del
ENST00000551340.5:c.372_374del
NM_173591.3:c.6217_6219del NP_775862.3:p.Leu2073del
XM_005268802.2:c.6268_6270del XP_005268859.1:p.Leu2090del
XM_011538191.1:c.6268_6270del XP_011536493.1:p.Leu2090del
XM_011538192.1:c.6115_6117del XP_011536494.1:p.Leu2039del
XM_011538193.1:c.5902_5904del XP_011536495.1:p.Leu1968del
XM_005268802.3:c.6268_6270del XP_005268859.1:p.Leu2090del
XM_011538192.2:c.6115_6117del XP_011536494.1:p.Leu2039del
NM_001368062.1:c.6082_6084del NP_001354991.1:p.Leu2028del
NM_001368062.3:c.6109_6111del NP_001354991.2:p.Leu2037del
NM_001378609.3:c.6244_6246del MANE Select NP_001365538.2:p.Leu2082del
NM_001378610.3:c.6244_6246del NP_001365539.2:p.Leu2082del
NM_173591.7:c.6244_6246del NP_775862.4:p.Leu2082del