Canonical Allele Identifier: CA2790592565
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501185_17501187del , CM000673.2:g.17501185_17501187del GRCh38
NC_000011.9:g.17522732_17522734del , CM000673.1:g.17522732_17522734del GRCh37
NC_000011.8:g.17479308_17479310del NCBI36
NG_011883.1:g.48232_48234del
NG_011883.2:g.48232_48234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-35_2281-33del MANE Select ENSP00000005226.7:n.2281-35_2281-33del
ENST00000318024.9:c.1381-35_1381-33del MANE Plus Clinical ENSP00000317018.4:n.1381-35_1381-33del
ENST00000005226.11:c.2281-35_2281-33del ENSP00000005226.7:n.2281-35_2281-33del
ENST00000318024.8:c.1381-35_1381-33del ENSP00000317018.4:n.1381-35_1381-33del
ENST00000526313.5:c.*95-35_*95-33del ENSP00000432236.1:n.*95-35_*95-33del
ENST00000527020.5:c.1324-35_1324-33del ENSP00000436934.1:n.1324-35_1324-33del
ENST00000527720.5:c.1288-35_1288-33del ENSP00000432944.1:n.1288-35_1288-33del
ENST00000529563.5:n.265-35_265-33del
ENST00000534556.1:n.166-35_166-33del
NM_001297764.1:c.1324-35_1324-33del NP_001284693.1:n.1324-35_1324-33del
NM_005709.3:c.1381-35_1381-33del NP_005700.2:n.1381-35_1381-33del
NM_153676.3:c.2281-35_2281-33del NP_710142.1:n.2281-35_2281-33del
NR_123738.1:n.1416-35_1416-33del
XM_011519831.1:c.2305-35_2305-33del XP_011518133.1:n.2305-35_2305-33del
XM_011519832.1:c.1534-35_1534-33del XP_011518134.1:n.1534-35_1534-33del
XM_011519833.1:c.1431-35_1431-33del XP_011518135.1:n.1431-35_1431-33del
XR_930841.1:n.1752-35_1752-33del
XR_930842.1:n.1693-35_1693-33del
XM_011519832.3:c.1534-35_1534-33del XP_011518134.1:n.1534-35_1534-33del
XM_017017075.1:c.2281-35_2281-33del XP_016872564.1:n.2281-35_2281-33del
XR_001747717.2:n.1540-35_1540-33del
NM_153676.4:c.2281-35_2281-33del MANE Select NP_710142.1:n.2281-35_2281-33del
NM_001297764.2:c.1324-35_1324-33del NP_001284693.1:n.1324-35_1324-33del
NM_005709.4:c.1381-35_1381-33del MANE Plus Clinical NP_005700.2:n.1381-35_1381-33del
NR_123738.2:n.1416-35_1416-33del