Canonical Allele Identifier: CA2612673928
Gene: USH1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501380_17501381del , CM000673.2:g.17501380_17501381del GRCh38
NC_000011.9:g.17522927_17522928del , CM000673.1:g.17522927_17522928del GRCh37
NC_000011.8:g.17479503_17479504del NCBI36
NG_011883.1:g.48040_48041del
NG_011883.2:g.48040_48041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2280+105_2280+106del MANE Select ENSP00000005226.7:n.2280+105_2280+106del
ENST00000318024.9:c.1380+105_1380+106del MANE Plus Clinical ENSP00000317018.4:n.1380+105_1380+106del
ENST00000005226.11:c.2280+105_2280+106del ENSP00000005226.7:n.2280+105_2280+106del
ENST00000318024.8:c.1380+105_1380+106del ENSP00000317018.4:n.1380+105_1380+106del
ENST00000526313.5:c.*94+105_*94+106del ENSP00000432236.1:n.*94+105_*94+106del
ENST00000527020.5:c.1323+105_1323+106del ENSP00000436934.1:n.1323+105_1323+106del
ENST00000527720.5:c.1287+105_1287+106del ENSP00000432944.1:n.1287+105_1287+106del
ENST00000529563.5:n.264+105_264+106del
ENST00000534556.1:n.165+105_165+106del
NM_001297764.1:c.1323+105_1323+106del NP_001284693.1:n.1323+105_1323+106del
NM_005709.3:c.1380+105_1380+106del NP_005700.2:n.1380+105_1380+106del
NM_153676.3:c.2280+105_2280+106del NP_710142.1:n.2280+105_2280+106del
NR_123738.1:n.1415+105_1415+106del
XM_011519831.1:c.2304+105_2304+106del XP_011518133.1:n.2304+105_2304+106del
XM_011519832.1:c.1533+105_1533+106del XP_011518134.1:n.1533+105_1533+106del
XM_011519833.1:c.1430+105_1430+106del XP_011518135.1:n.1430+105_1430+106del
XR_930841.1:n.1751+105_1751+106del
XR_930842.1:n.1692+105_1692+106del
XM_011519832.3:c.1533+105_1533+106del XP_011518134.1:n.1533+105_1533+106del
XM_017017075.1:c.2280+105_2280+106del XP_016872564.1:n.2280+105_2280+106del
XR_001747717.2:n.1539+105_1539+106del
NM_153676.4:c.2280+105_2280+106del MANE Select NP_710142.1:n.2280+105_2280+106del
NM_001297764.2:c.1323+105_1323+106del NP_001284693.1:n.1323+105_1323+106del
NM_005709.4:c.1380+105_1380+106del MANE Plus Clinical NP_005700.2:n.1380+105_1380+106del
NR_123738.2:n.1415+105_1415+106del