Canonical Allele Identifier: CA2790592575
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501226_17501227del , CM000673.2:g.17501226_17501227del GRCh38
NC_000011.9:g.17522773_17522774del , CM000673.1:g.17522773_17522774del GRCh37
NC_000011.8:g.17479349_17479350del NCBI36
NG_011883.1:g.48190_48191del
NG_011883.2:g.48190_48191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-77_2281-76del MANE Select ENSP00000005226.7:n.2281-77_2281-76del
ENST00000318024.9:c.1381-77_1381-76del MANE Plus Clinical ENSP00000317018.4:n.1381-77_1381-76del
ENST00000005226.11:c.2281-77_2281-76del ENSP00000005226.7:n.2281-77_2281-76del
ENST00000318024.8:c.1381-77_1381-76del ENSP00000317018.4:n.1381-77_1381-76del
ENST00000526313.5:c.*95-77_*95-76del ENSP00000432236.1:n.*95-77_*95-76del
ENST00000527020.5:c.1324-77_1324-76del ENSP00000436934.1:n.1324-77_1324-76del
ENST00000527720.5:c.1288-77_1288-76del ENSP00000432944.1:n.1288-77_1288-76del
ENST00000529563.5:n.265-77_265-76del
ENST00000534556.1:n.166-77_166-76del
NM_001297764.1:c.1324-77_1324-76del NP_001284693.1:n.1324-77_1324-76del
NM_005709.3:c.1381-77_1381-76del NP_005700.2:n.1381-77_1381-76del
NM_153676.3:c.2281-77_2281-76del NP_710142.1:n.2281-77_2281-76del
NR_123738.1:n.1416-77_1416-76del
XM_011519831.1:c.2305-77_2305-76del XP_011518133.1:n.2305-77_2305-76del
XM_011519832.1:c.1534-77_1534-76del XP_011518134.1:n.1534-77_1534-76del
XM_011519833.1:c.1431-77_1431-76del XP_011518135.1:n.1431-77_1431-76del
XR_930841.1:n.1752-77_1752-76del
XR_930842.1:n.1693-77_1693-76del
XM_011519832.3:c.1534-77_1534-76del XP_011518134.1:n.1534-77_1534-76del
XM_017017075.1:c.2281-77_2281-76del XP_016872564.1:n.2281-77_2281-76del
XR_001747717.2:n.1540-77_1540-76del
NM_153676.4:c.2281-77_2281-76del MANE Select NP_710142.1:n.2281-77_2281-76del
NM_001297764.2:c.1324-77_1324-76del NP_001284693.1:n.1324-77_1324-76del
NM_005709.4:c.1381-77_1381-76del MANE Plus Clinical NP_005700.2:n.1381-77_1381-76del
NR_123738.2:n.1416-77_1416-76del