Canonical Allele Identifier: CA674236270
Gene: USH1C HGNC NCBI

Linked Data

dbSNP Id: rs1418614932

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501405_17501409del , CM000673.2:g.17501405_17501409del GRCh38
NC_000011.9:g.17522952_17522956del , CM000673.1:g.17522952_17522956del GRCh37
NC_000011.8:g.17479528_17479532del NCBI36
NG_011883.1:g.48012_48016del
NG_011883.2:g.48012_48016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2280+77_2280+81del MANE Select ENSP00000005226.7:n.2280+77_2280+81del
ENST00000318024.9:c.1380+77_1380+81del MANE Plus Clinical ENSP00000317018.4:n.1380+77_1380+81del
ENST00000005226.11:c.2280+77_2280+81del ENSP00000005226.7:n.2280+77_2280+81del
ENST00000318024.8:c.1380+77_1380+81del ENSP00000317018.4:n.1380+77_1380+81del
ENST00000526313.5:c.*94+77_*94+81del ENSP00000432236.1:n.*94+77_*94+81del
ENST00000527020.5:c.1323+77_1323+81del ENSP00000436934.1:n.1323+77_1323+81del
ENST00000527720.5:c.1287+77_1287+81del ENSP00000432944.1:n.1287+77_1287+81del
ENST00000529563.5:n.264+77_264+81del
ENST00000534556.1:n.165+77_165+81del
NM_001297764.1:c.1323+77_1323+81del NP_001284693.1:n.1323+77_1323+81del
NM_005709.3:c.1380+77_1380+81del NP_005700.2:n.1380+77_1380+81del
NM_153676.3:c.2280+77_2280+81del NP_710142.1:n.2280+77_2280+81del
NR_123738.1:n.1415+77_1415+81del
XM_011519831.1:c.2304+77_2304+81del XP_011518133.1:n.2304+77_2304+81del
XM_011519832.1:c.1533+77_1533+81del XP_011518134.1:n.1533+77_1533+81del
XM_011519833.1:c.1430+77_1430+81del XP_011518135.1:n.1430+77_1430+81del
XR_930841.1:n.1751+77_1751+81del
XR_930842.1:n.1692+77_1692+81del
XM_011519832.3:c.1533+77_1533+81del XP_011518134.1:n.1533+77_1533+81del
XM_017017075.1:c.2280+77_2280+81del XP_016872564.1:n.2280+77_2280+81del
XR_001747717.2:n.1539+77_1539+81del
NM_153676.4:c.2280+77_2280+81del MANE Select NP_710142.1:n.2280+77_2280+81del
NM_001297764.2:c.1323+77_1323+81del NP_001284693.1:n.1323+77_1323+81del
NM_005709.4:c.1380+77_1380+81del MANE Plus Clinical NP_005700.2:n.1380+77_1380+81del
NR_123738.2:n.1415+77_1415+81del