Canonical Allele Identifier: CA2790592568
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501205_17501365del , CM000673.2:g.17501205_17501365del GRCh38
NC_000011.9:g.17522752_17522912del , CM000673.1:g.17522752_17522912del GRCh37
NC_000011.8:g.17479328_17479488del NCBI36
NG_011883.1:g.48057_48217del
NG_011883.2:g.48057_48217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2280+122_2281-50del MANE Select ENSP00000005226.7:n.2280+122_2281-50del
ENST00000318024.9:c.1380+122_1381-50del MANE Plus Clinical ENSP00000317018.4:n.1380+122_1381-50del
ENST00000005226.11:c.2280+122_2281-50del ENSP00000005226.7:n.2280+122_2281-50del
ENST00000318024.8:c.1380+122_1381-50del ENSP00000317018.4:n.1380+122_1381-50del
ENST00000526313.5:c.*94+122_*95-50del ENSP00000432236.1:n.*94+122_*95-50del
ENST00000527020.5:c.1323+122_1324-50del ENSP00000436934.1:n.1323+122_1324-50del
ENST00000527720.5:c.1287+122_1288-50del ENSP00000432944.1:n.1287+122_1288-50del
ENST00000529563.5:n.264+122_265-50del
ENST00000534556.1:n.165+122_166-50del
NM_001297764.1:c.1323+122_1324-50del NP_001284693.1:n.1323+122_1324-50del
NM_005709.3:c.1380+122_1381-50del NP_005700.2:n.1380+122_1381-50del
NM_153676.3:c.2280+122_2281-50del NP_710142.1:n.2280+122_2281-50del
NR_123738.1:n.1415+122_1416-50del
XM_011519831.1:c.2304+122_2305-50del XP_011518133.1:n.2304+122_2305-50del
XM_011519832.1:c.1533+122_1534-50del XP_011518134.1:n.1533+122_1534-50del
XM_011519833.1:c.1430+122_1431-50del XP_011518135.1:n.1430+122_1431-50del
XR_930841.1:n.1751+122_1752-50del
XR_930842.1:n.1692+122_1693-50del
XM_011519832.3:c.1533+122_1534-50del XP_011518134.1:n.1533+122_1534-50del
XM_017017075.1:c.2280+122_2281-50del XP_016872564.1:n.2280+122_2281-50del
XR_001747717.2:n.1539+122_1540-50del
NM_153676.4:c.2280+122_2281-50del MANE Select NP_710142.1:n.2280+122_2281-50del
NM_001297764.2:c.1323+122_1324-50del NP_001284693.1:n.1323+122_1324-50del
NM_005709.4:c.1380+122_1381-50del MANE Plus Clinical NP_005700.2:n.1380+122_1381-50del
NR_123738.2:n.1415+122_1416-50del