Canonical Allele Identifier: CA2575235849
Gene: OTOGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80358856_80358857del , CM000674.2:g.80358856_80358857del GRCh38
NC_000012.11:g.80752636_80752637del , CM000674.1:g.80752636_80752637del GRCh37
NC_000012.10:g.79276767_79276768del NCBI36
NG_033008.1:g.154404_154405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000547103.7:c.6227-4_6227-3del MANE Select ENSP00000447211.2:n.6227-4_6227-3del
ENST00000642294.1:c.167-4_167-3del ENSP00000493572.1:n.167-4_167-3del
ENST00000646859.1:c.6092-4_6092-3del ENSP00000496036.1:n.6092-4_6092-3del
ENST00000298820.7:c.1527+81_1527+82del
ENST00000458043.6:c.6200-4_6200-3del ENSP00000400895.2:n.6200-4_6200-3del
ENST00000546620.5:n.483-4_483-3del
ENST00000547103.5:c.6164-4_6164-3del ENSP00000447211.1:n.6164-4_6164-3del
ENST00000550182.2:c.251-4_251-3del ENSP00000449641.1:n.251-4_251-3del
ENST00000551340.5:c.355-4_355-3del
NM_173591.3:c.6200-4_6200-3del NP_775862.3:n.6200-4_6200-3del
XM_005268802.2:c.6251-4_6251-3del XP_005268859.1:n.6251-4_6251-3del
XM_011538191.1:c.6251-4_6251-3del XP_011536493.1:n.6251-4_6251-3del
XM_011538192.1:c.6098-4_6098-3del XP_011536494.1:n.6098-4_6098-3del
XM_011538193.1:c.5885-4_5885-3del XP_011536495.1:n.5885-4_5885-3del
XM_005268802.3:c.6251-4_6251-3del XP_005268859.1:n.6251-4_6251-3del
XM_011538192.2:c.6098-4_6098-3del XP_011536494.1:n.6098-4_6098-3del
NM_001368062.1:c.6065-4_6065-3del NP_001354991.1:n.6065-4_6065-3del
NM_001368062.3:c.6092-4_6092-3del NP_001354991.2:n.6092-4_6092-3del
NM_001378609.3:c.6227-4_6227-3del MANE Select NP_001365538.2:n.6227-4_6227-3del
NM_001378610.3:c.6227-4_6227-3del NP_001365539.2:n.6227-4_6227-3del
NM_173591.7:c.6227-4_6227-3del NP_775862.4:n.6227-4_6227-3del