Canonical Allele Identifier: CA2212563700
Gene: OTOA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21710133_21710134delinsTC , CM000678.2:g.21710133_21710134delinsTC GRCh38
NC_000016.9:g.21721454_21721455delinsTC , CM000678.1:g.21721454_21721455delinsTC GRCh37
NC_000016.8:g.21628955_21628956delinsTC NCBI36
NG_012973.1:g.36620_36621delinsTC
NG_012973.2:g.51001_51002delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000388958.8:c.1320+30_1320+31delinsTC ENSP00000373610.3:n.1320+30_1320+31delinsTC
ENST00000646100.2:c.1320+30_1320+31delinsTC MANE Select ENSP00000496564.2:n.1320+30_1320+31delinsTC
ENST00000647277.1:c.*134+30_*134+31delinsTC ENSP00000495594.1:n.*134+30_*134+31delinsTC
ENST00000286149.8:c.1362+30_1362+31delinsTC ENSP00000286149.4:n.1362+30_1362+31delinsTC
ENST00000388956.8:c.1083+30_1083+31delinsTC ENSP00000373608.4:n.1083+30_1083+31delinsTC
ENST00000388957.3:c.348+30_348+31delinsTC ENSP00000373609.3:n.348+30_348+31delinsTC
ENST00000388958.7:c.1320+30_1320+31delinsTC ENSP00000373610.3:n.1320+30_1320+31delinsTC
ENST00000563871.5:n.540+30_540+31delinsTC
NM_001161683.1:c.1083+30_1083+31delinsTC NP_001155155.1:n.1083+30_1083+31delinsTC
NM_144672.3:c.1320+30_1320+31delinsTC NP_653273.3:n.1320+30_1320+31delinsTC
NM_170664.2:c.348+30_348+31delinsTC NP_733764.1:n.348+30_348+31delinsTC
XM_011545747.1:c.1320+30_1320+31delinsTC XP_011544049.1:n.1320+30_1320+31delinsTC
XM_011545748.1:c.189+30_189+31delinsTC XP_011544050.1:n.189+30_189+31delinsTC
NM_144672.4:c.1320+30_1320+31delinsTC MANE Select NP_653273.3:n.1320+30_1320+31delinsTC
XM_011545748.2:c.189+30_189+31delinsTC XP_011544050.2:n.189+30_189+31delinsTC
XR_002957775.1:n.415+30_415+31delinsTC
NM_001161683.2:c.1083+30_1083+31delinsTC NP_001155155.1:n.1083+30_1083+31delinsTC
NM_170664.3:c.348+30_348+31delinsTC NP_733764.1:n.348+30_348+31delinsTC