Canonical Allele Identifier: CA2790592564
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501176_17501177del , CM000673.2:g.17501176_17501177del GRCh38
NC_000011.9:g.17522723_17522724del , CM000673.1:g.17522723_17522724del GRCh37
NC_000011.8:g.17479299_17479300del NCBI36
NG_011883.1:g.48241_48242del
NG_011883.2:g.48241_48242del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-26_2281-25del MANE Select ENSP00000005226.7:n.2281-26_2281-25del
ENST00000318024.9:c.1381-26_1381-25del MANE Plus Clinical ENSP00000317018.4:n.1381-26_1381-25del
ENST00000005226.11:c.2281-26_2281-25del ENSP00000005226.7:n.2281-26_2281-25del
ENST00000318024.8:c.1381-26_1381-25del ENSP00000317018.4:n.1381-26_1381-25del
ENST00000526313.5:c.*95-26_*95-25del ENSP00000432236.1:n.*95-26_*95-25del
ENST00000527020.5:c.1324-26_1324-25del ENSP00000436934.1:n.1324-26_1324-25del
ENST00000527720.5:c.1288-26_1288-25del ENSP00000432944.1:n.1288-26_1288-25del
ENST00000529563.5:n.265-26_265-25del
ENST00000534556.1:n.166-26_166-25del
NM_001297764.1:c.1324-26_1324-25del NP_001284693.1:n.1324-26_1324-25del
NM_005709.3:c.1381-26_1381-25del NP_005700.2:n.1381-26_1381-25del
NM_153676.3:c.2281-26_2281-25del NP_710142.1:n.2281-26_2281-25del
NR_123738.1:n.1416-26_1416-25del
XM_011519831.1:c.2305-26_2305-25del XP_011518133.1:n.2305-26_2305-25del
XM_011519832.1:c.1534-26_1534-25del XP_011518134.1:n.1534-26_1534-25del
XM_011519833.1:c.1431-26_1431-25del XP_011518135.1:n.1431-26_1431-25del
XR_930841.1:n.1752-26_1752-25del
XR_930842.1:n.1693-26_1693-25del
XM_011519832.3:c.1534-26_1534-25del XP_011518134.1:n.1534-26_1534-25del
XM_017017075.1:c.2281-26_2281-25del XP_016872564.1:n.2281-26_2281-25del
XR_001747717.2:n.1540-26_1540-25del
NM_153676.4:c.2281-26_2281-25del MANE Select NP_710142.1:n.2281-26_2281-25del
NM_001297764.2:c.1324-26_1324-25del NP_001284693.1:n.1324-26_1324-25del
NM_005709.4:c.1381-26_1381-25del MANE Plus Clinical NP_005700.2:n.1381-26_1381-25del
NR_123738.2:n.1416-26_1416-25del