Canonical Allele Identifier: CA1955173333
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501303_17501305delinsCAA , CM000673.2:g.17501303_17501305delinsCAA GRCh38
NC_000011.9:g.17522850_17522852delinsCAA , CM000673.1:g.17522850_17522852delinsCAA GRCh37
NC_000011.8:g.17479426_17479428delinsCAA NCBI36
NG_011883.1:g.48112_48114delinsTTG
NG_011883.2:g.48112_48114delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2281-155_2281-153delinsTTG MANE Select ENSP00000005226.7:n.2281-155_2281-153delinsTTG
ENST00000318024.9:c.1381-155_1381-153delinsTTG MANE Plus Clinical ENSP00000317018.4:n.1381-155_1381-153delinsTTG
ENST00000005226.11:c.2281-155_2281-153delinsTTG ENSP00000005226.7:n.2281-155_2281-153delinsTTG
ENST00000318024.8:c.1381-155_1381-153delinsTTG ENSP00000317018.4:n.1381-155_1381-153delinsTTG
ENST00000526313.5:c.*95-155_*95-153delinsTTG ENSP00000432236.1:n.*95-155_*95-153delinsTTG
ENST00000527020.5:c.1324-155_1324-153delinsTTG ENSP00000436934.1:n.1324-155_1324-153delinsTTG
ENST00000527720.5:c.1288-155_1288-153delinsTTG ENSP00000432944.1:n.1288-155_1288-153delinsTTG
ENST00000529563.5:n.265-155_265-153delinsTTG
ENST00000534556.1:n.166-155_166-153delinsTTG
NM_001297764.1:c.1324-155_1324-153delinsTTG NP_001284693.1:n.1324-155_1324-153delinsTTG
NM_005709.3:c.1381-155_1381-153delinsTTG NP_005700.2:n.1381-155_1381-153delinsTTG
NM_153676.3:c.2281-155_2281-153delinsTTG NP_710142.1:n.2281-155_2281-153delinsTTG
NR_123738.1:n.1416-155_1416-153delinsTTG
XM_011519831.1:c.2305-155_2305-153delinsTTG XP_011518133.1:n.2305-155_2305-153delinsTTG
XM_011519832.1:c.1534-155_1534-153delinsTTG XP_011518134.1:n.1534-155_1534-153delinsTTG
XM_011519833.1:c.1431-155_1431-153delinsTTG XP_011518135.1:n.1431-155_1431-153delinsTTG
XR_930841.1:n.1752-155_1752-153delinsTTG
XR_930842.1:n.1693-155_1693-153delinsTTG
XM_011519832.3:c.1534-155_1534-153delinsTTG XP_011518134.1:n.1534-155_1534-153delinsTTG
XM_017017075.1:c.2281-155_2281-153delinsTTG XP_016872564.1:n.2281-155_2281-153delinsTTG
XR_001747717.2:n.1540-155_1540-153delinsTTG
NM_153676.4:c.2281-155_2281-153delinsTTG MANE Select NP_710142.1:n.2281-155_2281-153delinsTTG
NM_001297764.2:c.1324-155_1324-153delinsTTG NP_001284693.1:n.1324-155_1324-153delinsTTG
NM_005709.4:c.1381-155_1381-153delinsTTG MANE Plus Clinical NP_005700.2:n.1381-155_1381-153delinsTTG
NR_123738.2:n.1416-155_1416-153delinsTTG