Canonical Allele Identifier: CA1955173379
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17501384_17501385delinsAC , CM000673.2:g.17501384_17501385delinsAC GRCh38
NC_000011.9:g.17522931_17522932delinsAC , CM000673.1:g.17522931_17522932delinsAC GRCh37
NC_000011.8:g.17479507_17479508delinsAC NCBI36
NG_011883.1:g.48032_48033delinsGT
NG_011883.2:g.48032_48033delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2280+97_2280+98delinsGT MANE Select ENSP00000005226.7:n.2280+97_2280+98delinsGT
ENST00000318024.9:c.1380+97_1380+98delinsGT MANE Plus Clinical ENSP00000317018.4:n.1380+97_1380+98delinsGT
ENST00000005226.11:c.2280+97_2280+98delinsGT ENSP00000005226.7:n.2280+97_2280+98delinsGT
ENST00000318024.8:c.1380+97_1380+98delinsGT ENSP00000317018.4:n.1380+97_1380+98delinsGT
ENST00000526313.5:c.*94+97_*94+98delinsGT ENSP00000432236.1:n.*94+97_*94+98delinsGT
ENST00000527020.5:c.1323+97_1323+98delinsGT ENSP00000436934.1:n.1323+97_1323+98delinsGT
ENST00000527720.5:c.1287+97_1287+98delinsGT ENSP00000432944.1:n.1287+97_1287+98delinsGT
ENST00000529563.5:n.264+97_264+98delinsGT
ENST00000534556.1:n.165+97_165+98delinsGT
NM_001297764.1:c.1323+97_1323+98delinsGT NP_001284693.1:n.1323+97_1323+98delinsGT
NM_005709.3:c.1380+97_1380+98delinsGT NP_005700.2:n.1380+97_1380+98delinsGT
NM_153676.3:c.2280+97_2280+98delinsGT NP_710142.1:n.2280+97_2280+98delinsGT
NR_123738.1:n.1415+97_1415+98delinsGT
XM_011519831.1:c.2304+97_2304+98delinsGT XP_011518133.1:n.2304+97_2304+98delinsGT
XM_011519832.1:c.1533+97_1533+98delinsGT XP_011518134.1:n.1533+97_1533+98delinsGT
XM_011519833.1:c.1430+97_1430+98delinsGT XP_011518135.1:n.1430+97_1430+98delinsGT
XR_930841.1:n.1751+97_1751+98delinsGT
XR_930842.1:n.1692+97_1692+98delinsGT
XM_011519832.3:c.1533+97_1533+98delinsGT XP_011518134.1:n.1533+97_1533+98delinsGT
XM_017017075.1:c.2280+97_2280+98delinsGT XP_016872564.1:n.2280+97_2280+98delinsGT
XR_001747717.2:n.1539+97_1539+98delinsGT
NM_153676.4:c.2280+97_2280+98delinsGT MANE Select NP_710142.1:n.2280+97_2280+98delinsGT
NM_001297764.2:c.1323+97_1323+98delinsGT NP_001284693.1:n.1323+97_1323+98delinsGT
NM_005709.4:c.1380+97_1380+98delinsGT MANE Plus Clinical NP_005700.2:n.1380+97_1380+98delinsGT
NR_123738.2:n.1415+97_1415+98delinsGT