Canonical Allele Identifier: CA2790592584
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501246_17501247insACA , CM000673.2:g.17501246_17501247insACA GRCh38
NC_000011.9:g.17522793_17522794insACA , CM000673.1:g.17522793_17522794insACA GRCh37
NC_000011.8:g.17479369_17479370insACA NCBI36
NG_011883.1:g.48170_48171insTGT
NG_011883.2:g.48170_48171insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-97_2281-96insTGT MANE Select ENSP00000005226.7:n.2281-97_2281-96insTGT
ENST00000318024.9:c.1381-97_1381-96insTGT MANE Plus Clinical ENSP00000317018.4:n.1381-97_1381-96insTGT
ENST00000005226.11:c.2281-97_2281-96insTGT ENSP00000005226.7:n.2281-97_2281-96insTGT
ENST00000318024.8:c.1381-97_1381-96insTGT ENSP00000317018.4:n.1381-97_1381-96insTGT
ENST00000526313.5:c.*95-97_*95-96insTGT ENSP00000432236.1:n.*95-97_*95-96insTGT
ENST00000527020.5:c.1324-97_1324-96insTGT ENSP00000436934.1:n.1324-97_1324-96insTGT
ENST00000527720.5:c.1288-97_1288-96insTGT ENSP00000432944.1:n.1288-97_1288-96insTGT
ENST00000529563.5:n.265-97_265-96insTGT
ENST00000534556.1:n.166-97_166-96insTGT
NM_001297764.1:c.1324-97_1324-96insTGT NP_001284693.1:n.1324-97_1324-96insTGT
NM_005709.3:c.1381-97_1381-96insTGT NP_005700.2:n.1381-97_1381-96insTGT
NM_153676.3:c.2281-97_2281-96insTGT NP_710142.1:n.2281-97_2281-96insTGT
NR_123738.1:n.1416-97_1416-96insTGT
XM_011519831.1:c.2305-97_2305-96insTGT XP_011518133.1:n.2305-97_2305-96insTGT
XM_011519832.1:c.1534-97_1534-96insTGT XP_011518134.1:n.1534-97_1534-96insTGT
XM_011519833.1:c.1431-97_1431-96insTGT XP_011518135.1:n.1431-97_1431-96insTGT
XR_930841.1:n.1752-97_1752-96insTGT
XR_930842.1:n.1693-97_1693-96insTGT
XM_011519832.3:c.1534-97_1534-96insTGT XP_011518134.1:n.1534-97_1534-96insTGT
XM_017017075.1:c.2281-97_2281-96insTGT XP_016872564.1:n.2281-97_2281-96insTGT
XR_001747717.2:n.1540-97_1540-96insTGT
NM_153676.4:c.2281-97_2281-96insTGT MANE Select NP_710142.1:n.2281-97_2281-96insTGT
NM_001297764.2:c.1324-97_1324-96insTGT NP_001284693.1:n.1324-97_1324-96insTGT
NM_005709.4:c.1381-97_1381-96insTGT MANE Plus Clinical NP_005700.2:n.1381-97_1381-96insTGT
NR_123738.2:n.1416-97_1416-96insTGT