Canonical Allele Identifier: CA2790591816
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494458_17494459insA , CM000673.2:g.17494458_17494459insA GRCh38
NC_000011.9:g.17516005_17516006insA , CM000673.1:g.17516005_17516006insA GRCh37
NC_000011.8:g.17472581_17472582insA NCBI36
NG_011883.1:g.54958_54959insT
NG_011883.2:g.54958_54959insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-83_2656-82insT MANE Select ENSP00000005226.7:n.2656-83_2656-82insT
ENST00000318024.9:c.1647-83_1647-82insT MANE Plus Clinical ENSP00000317018.4:n.1647-83_1647-82insT
ENST00000005226.11:c.2656-83_2656-82insT ENSP00000005226.7:n.2656-83_2656-82insT
ENST00000318024.8:c.1647-83_1647-82insT ENSP00000317018.4:n.1647-83_1647-82insT
ENST00000526313.5:c.*361-83_*361-82insT ENSP00000432236.1:n.*361-83_*361-82insT
ENST00000527020.5:c.1590-83_1590-82insT ENSP00000436934.1:n.1590-83_1590-82insT
ENST00000527551.1:n.157-83_157-82insT
ENST00000527720.5:c.1554-83_1554-82insT ENSP00000432944.1:n.1554-83_1554-82insT
ENST00000529563.5:n.531-83_531-82insT
ENST00000624811.1:n.635_636insT
NM_001297764.1:c.1590-83_1590-82insT NP_001284693.1:n.1590-83_1590-82insT
NM_005709.3:c.1647-83_1647-82insT NP_005700.2:n.1647-83_1647-82insT
NM_153676.3:c.2656-83_2656-82insT NP_710142.1:n.2656-83_2656-82insT
NR_123738.1:n.1682-83_1682-82insT
XM_011519831.1:c.2571-83_2571-82insT XP_011518133.1:n.2571-83_2571-82insT
XM_011519832.1:c.1800-83_1800-82insT XP_011518134.1:n.1800-83_1800-82insT
XM_011519832.3:c.1800-83_1800-82insT XP_011518134.1:n.1800-83_1800-82insT
XM_017017075.1:c.*894_*895insT XP_016872564.1:n.*894_*895insT
XR_001747717.2:n.1806-83_1806-82insT
NM_153676.4:c.2656-83_2656-82insT MANE Select NP_710142.1:n.2656-83_2656-82insT
NM_001297764.2:c.1590-83_1590-82insT NP_001284693.1:n.1590-83_1590-82insT
NM_005709.4:c.1647-83_1647-82insT MANE Plus Clinical NP_005700.2:n.1647-83_1647-82insT
NR_123738.2:n.1682-83_1682-82insT