Canonical Allele Identifier: CA2790592577
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501229_17501230insTC , CM000673.2:g.17501229_17501230insTC GRCh38
NC_000011.9:g.17522776_17522777insTC , CM000673.1:g.17522776_17522777insTC GRCh37
NC_000011.8:g.17479352_17479353insTC NCBI36
NG_011883.1:g.48188_48189insAG
NG_011883.2:g.48188_48189insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-79_2281-78insAG MANE Select ENSP00000005226.7:n.2281-79_2281-78insAG
ENST00000318024.9:c.1381-79_1381-78insAG MANE Plus Clinical ENSP00000317018.4:n.1381-79_1381-78insAG
ENST00000005226.11:c.2281-79_2281-78insAG ENSP00000005226.7:n.2281-79_2281-78insAG
ENST00000318024.8:c.1381-79_1381-78insAG ENSP00000317018.4:n.1381-79_1381-78insAG
ENST00000526313.5:c.*95-79_*95-78insAG ENSP00000432236.1:n.*95-79_*95-78insAG
ENST00000527020.5:c.1324-79_1324-78insAG ENSP00000436934.1:n.1324-79_1324-78insAG
ENST00000527720.5:c.1288-79_1288-78insAG ENSP00000432944.1:n.1288-79_1288-78insAG
ENST00000529563.5:n.265-79_265-78insAG
ENST00000534556.1:n.166-79_166-78insAG
NM_001297764.1:c.1324-79_1324-78insAG NP_001284693.1:n.1324-79_1324-78insAG
NM_005709.3:c.1381-79_1381-78insAG NP_005700.2:n.1381-79_1381-78insAG
NM_153676.3:c.2281-79_2281-78insAG NP_710142.1:n.2281-79_2281-78insAG
NR_123738.1:n.1416-79_1416-78insAG
XM_011519831.1:c.2305-79_2305-78insAG XP_011518133.1:n.2305-79_2305-78insAG
XM_011519832.1:c.1534-79_1534-78insAG XP_011518134.1:n.1534-79_1534-78insAG
XM_011519833.1:c.1431-79_1431-78insAG XP_011518135.1:n.1431-79_1431-78insAG
XR_930841.1:n.1752-79_1752-78insAG
XR_930842.1:n.1693-79_1693-78insAG
XM_011519832.3:c.1534-79_1534-78insAG XP_011518134.1:n.1534-79_1534-78insAG
XM_017017075.1:c.2281-79_2281-78insAG XP_016872564.1:n.2281-79_2281-78insAG
XR_001747717.2:n.1540-79_1540-78insAG
NM_153676.4:c.2281-79_2281-78insAG MANE Select NP_710142.1:n.2281-79_2281-78insAG
NM_001297764.2:c.1324-79_1324-78insAG NP_001284693.1:n.1324-79_1324-78insAG
NM_005709.4:c.1381-79_1381-78insAG MANE Plus Clinical NP_005700.2:n.1381-79_1381-78insAG
NR_123738.2:n.1416-79_1416-78insAG