Canonical Allele Identifier: CA935537127
Gene: USH1C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17509560_17509562del , CM000673.2:g.17509560_17509562del GRCh38
NC_000011.9:g.17531107_17531109del , CM000673.1:g.17531107_17531109del GRCh37
NC_000011.8:g.17487683_17487685del NCBI36
NG_011883.1:g.39855_39857del
NG_011883.2:g.39855_39857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.1807_1809del MANE Select ENSP00000005226.7:p.Ile603del
ENST00000318024.9:c.1285-7582_1285-7580del MANE Plus Clinical ENSP00000317018.4:n.1285-7582_1285-7580del
ENST00000005226.11:c.1807_1809del ENSP00000005226.7:p.Ile603del
ENST00000318024.8:c.1285-7582_1285-7580del ENSP00000317018.4:n.1285-7582_1285-7580del
ENST00000526313.5:c.1211-7582_1211-7580del ENSP00000432236.1:n.1211-7582_1211-7580del
ENST00000527020.5:c.1228-7582_1228-7580del ENSP00000436934.1:n.1228-7582_1228-7580del
ENST00000527720.5:c.1192-7582_1192-7580del ENSP00000432944.1:n.1192-7582_1192-7580del
ENST00000529563.5:n.168+6893_168+6895del
NM_001297764.1:c.1228-7582_1228-7580del NP_001284693.1:n.1228-7582_1228-7580del
NM_005709.3:c.1285-7582_1285-7580del NP_005700.2:n.1285-7582_1285-7580del
NM_153676.3:c.1807_1809del NP_710142.1:p.Ile603del
NR_123738.1:n.1320-7582_1320-7580del
XM_011519831.1:c.1831_1833del XP_011518133.1:p.Ile611del
XM_011519832.1:c.1437+2340_1437+2342del XP_011518134.1:n.1437+2340_1437+2342del
XM_011519833.1:c.1334+6679_1334+6681del XP_011518135.1:n.1334+6679_1334+6681del
XR_930841.1:n.1655+2340_1655+2342del
XR_930842.1:n.1596+2340_1596+2342del
XM_011519832.3:c.1437+2340_1437+2342del XP_011518134.1:n.1437+2340_1437+2342del
XM_017017072.1:c.1831_1833del XP_016872561.1:p.Ile611del
XM_017017073.1:c.1774_1776del XP_016872562.1:p.Ile592del
XM_017017074.1:c.1555-333_1555-331del XP_016872563.1:n.1555-333_1555-331del
XM_017017075.1:c.1807_1809del XP_016872564.1:p.Ile603del
XR_001747717.2:n.1443+6679_1443+6681del
NM_153676.4:c.1807_1809del MANE Select NP_710142.1:p.Ile603del
NM_001297764.2:c.1228-7582_1228-7580del NP_001284693.1:n.1228-7582_1228-7580del
NM_005709.4:c.1285-7582_1285-7580del MANE Plus Clinical NP_005700.2:n.1285-7582_1285-7580del
NR_123738.2:n.1320-7582_1320-7580del