Canonical Allele Identifier: CA1955177070
Gene: USH1C HGNC NCBI

Linked Data

dbSNP Id: rs1849766272

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17509332_17509333del , CM000673.2:g.17509332_17509333del GRCh38
NC_000011.9:g.17530879_17530880del , CM000673.1:g.17530879_17530880del GRCh37
NC_000011.8:g.17487455_17487456del NCBI36
NG_011883.1:g.40085_40086del
NG_011883.2:g.40085_40086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2013+24_2013+25del MANE Select ENSP00000005226.7:n.2013+24_2013+25del
ENST00000318024.9:c.1285-7352_1285-7351del MANE Plus Clinical ENSP00000317018.4:n.1285-7352_1285-7351del
ENST00000005226.11:c.2013+24_2013+25del ENSP00000005226.7:n.2013+24_2013+25del
ENST00000318024.8:c.1285-7352_1285-7351del ENSP00000317018.4:n.1285-7352_1285-7351del
ENST00000526313.5:c.1211-7352_1211-7351del ENSP00000432236.1:n.1211-7352_1211-7351del
ENST00000527020.5:c.1228-7352_1228-7351del ENSP00000436934.1:n.1228-7352_1228-7351del
ENST00000527720.5:c.1192-7352_1192-7351del ENSP00000432944.1:n.1192-7352_1192-7351del
ENST00000529563.5:n.168+7123_168+7124del
NM_001297764.1:c.1228-7352_1228-7351del NP_001284693.1:n.1228-7352_1228-7351del
NM_005709.3:c.1285-7352_1285-7351del NP_005700.2:n.1285-7352_1285-7351del
NM_153676.3:c.2013+24_2013+25del NP_710142.1:n.2013+24_2013+25del
NR_123738.1:n.1320-7352_1320-7351del
XM_011519831.1:c.2037+24_2037+25del XP_011518133.1:n.2037+24_2037+25del
XM_011519832.1:c.1437+2570_1437+2571del XP_011518134.1:n.1437+2570_1437+2571del
XM_011519833.1:c.1334+6909_1334+6910del XP_011518135.1:n.1334+6909_1334+6910del
XR_930841.1:n.1655+2570_1655+2571del
XR_930842.1:n.1596+2570_1596+2571del
XM_011519832.3:c.1437+2570_1437+2571del XP_011518134.1:n.1437+2570_1437+2571del
XM_017017072.1:c.2037+24_2037+25del XP_016872561.1:n.2037+24_2037+25del
XM_017017073.1:c.1980+24_1980+25del XP_016872562.1:n.1980+24_1980+25del
XM_017017074.1:c.1555-103_1555-102del XP_016872563.1:n.1555-103_1555-102del
XM_017017075.1:c.2013+24_2013+25del XP_016872564.1:n.2013+24_2013+25del
XR_001747717.2:n.1443+6909_1443+6910del
NM_153676.4:c.2013+24_2013+25del MANE Select NP_710142.1:n.2013+24_2013+25del
NM_001297764.2:c.1228-7352_1228-7351del NP_001284693.1:n.1228-7352_1228-7351del
NM_005709.4:c.1285-7352_1285-7351del MANE Plus Clinical NP_005700.2:n.1285-7352_1285-7351del
NR_123738.2:n.1320-7352_1320-7351del