Canonical Allele Identifier: CA2790594234
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17527134_17527135insACG , CM000673.2:g.17527134_17527135insACG GRCh38
NC_000011.9:g.17548681_17548682insACG , CM000673.1:g.17548681_17548682insACG GRCh37
NC_000011.8:g.17505257_17505258insACG NCBI36
NG_011883.1:g.22282_22283insCGT
NG_011883.2:g.22282_22283insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.496+88_496+89insCGT MANE Select ENSP00000005226.7:n.496+88_496+89insCGT
ENST00000318024.9:c.496+88_496+89insCGT MANE Plus Clinical ENSP00000317018.4:n.496+88_496+89insCGT
ENST00000005226.11:c.496+88_496+89insCGT ENSP00000005226.7:n.496+88_496+89insCGT
ENST00000318024.8:c.496+88_496+89insCGT ENSP00000317018.4:n.496+88_496+89insCGT
ENST00000526181.1:c.529+88_529+89insCGT ENSP00000437128.1:n.529+88_529+89insCGT
ENST00000526313.5:c.496+88_496+89insCGT ENSP00000432236.1:n.496+88_496+89insCGT
ENST00000527020.5:c.496+88_496+89insCGT ENSP00000436934.1:n.496+88_496+89insCGT
ENST00000527720.5:c.403+88_403+89insCGT ENSP00000432944.1:n.403+88_403+89insCGT
NM_001297764.1:c.496+88_496+89insCGT NP_001284693.1:n.496+88_496+89insCGT
NM_005709.3:c.496+88_496+89insCGT NP_005700.2:n.496+88_496+89insCGT
NM_153676.3:c.496+88_496+89insCGT NP_710142.1:n.496+88_496+89insCGT
NR_123738.1:n.605+88_605+89insCGT
XM_011519831.1:c.496+88_496+89insCGT XP_011518133.1:n.496+88_496+89insCGT
XM_011519832.1:c.496+88_496+89insCGT XP_011518134.1:n.496+88_496+89insCGT
XM_011519833.1:c.496+88_496+89insCGT XP_011518135.1:n.496+88_496+89insCGT
XM_011519834.1:c.496+88_496+89insCGT XP_011518136.1:n.496+88_496+89insCGT
XR_930841.1:n.605+88_605+89insCGT
XR_930842.1:n.605+88_605+89insCGT
XM_011519832.3:c.496+88_496+89insCGT XP_011518134.1:n.496+88_496+89insCGT
XM_011519834.2:c.496+88_496+89insCGT XP_011518136.1:n.496+88_496+89insCGT
XM_017017072.1:c.496+88_496+89insCGT XP_016872561.1:n.496+88_496+89insCGT
XM_017017073.1:c.496+88_496+89insCGT XP_016872562.1:n.496+88_496+89insCGT
XM_017017074.1:c.496+88_496+89insCGT XP_016872563.1:n.496+88_496+89insCGT
XM_017017075.1:c.496+88_496+89insCGT XP_016872564.1:n.496+88_496+89insCGT
XR_001747717.2:n.605+88_605+89insCGT
NM_153676.4:c.496+88_496+89insCGT MANE Select NP_710142.1:n.496+88_496+89insCGT
NM_001297764.2:c.496+88_496+89insCGT NP_001284693.1:n.496+88_496+89insCGT
NM_005709.4:c.496+88_496+89insCGT MANE Plus Clinical NP_005700.2:n.496+88_496+89insCGT
NR_123738.2:n.605+88_605+89insCGT