Canonical Allele Identifier: CA2790591900
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494637_17494638insAGA , CM000673.2:g.17494637_17494638insAGA GRCh38
NC_000011.9:g.17516184_17516185insAGA , CM000673.1:g.17516184_17516185insAGA GRCh37
NC_000011.8:g.17472760_17472761insAGA NCBI36
NG_011883.1:g.54779_54780insTCT
NG_011883.2:g.54779_54780insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-262_2656-261insTCT MANE Select ENSP00000005226.7:n.2656-262_2656-261insTCT
ENST00000318024.9:c.1647-262_1647-261insTCT MANE Plus Clinical ENSP00000317018.4:n.1647-262_1647-261insTCT
ENST00000005226.11:c.2656-262_2656-261insTCT ENSP00000005226.7:n.2656-262_2656-261insTCT
ENST00000318024.8:c.1647-262_1647-261insTCT ENSP00000317018.4:n.1647-262_1647-261insTCT
ENST00000526313.5:c.*361-262_*361-261insTCT ENSP00000432236.1:n.*361-262_*361-261insTCT
ENST00000527020.5:c.1590-262_1590-261insTCT ENSP00000436934.1:n.1590-262_1590-261insTCT
ENST00000527551.1:n.157-262_157-261insTCT
ENST00000527720.5:c.1554-262_1554-261insTCT ENSP00000432944.1:n.1554-262_1554-261insTCT
ENST00000529563.5:n.531-262_531-261insTCT
ENST00000624811.1:n.456_457insTCT
NM_001297764.1:c.1590-262_1590-261insTCT NP_001284693.1:n.1590-262_1590-261insTCT
NM_005709.3:c.1647-262_1647-261insTCT NP_005700.2:n.1647-262_1647-261insTCT
NM_153676.3:c.2656-262_2656-261insTCT NP_710142.1:n.2656-262_2656-261insTCT
NR_123738.1:n.1682-262_1682-261insTCT
XM_011519831.1:c.2571-262_2571-261insTCT XP_011518133.1:n.2571-262_2571-261insTCT
XM_011519832.1:c.1800-262_1800-261insTCT XP_011518134.1:n.1800-262_1800-261insTCT
XM_011519832.3:c.1800-262_1800-261insTCT XP_011518134.1:n.1800-262_1800-261insTCT
XM_017017075.1:c.*715_*716insTCT XP_016872564.1:n.*715_*716insTCT
XR_001747717.2:n.1806-262_1806-261insTCT
NM_153676.4:c.2656-262_2656-261insTCT MANE Select NP_710142.1:n.2656-262_2656-261insTCT
NM_001297764.2:c.1590-262_1590-261insTCT NP_001284693.1:n.1590-262_1590-261insTCT
NM_005709.4:c.1647-262_1647-261insTCT MANE Plus Clinical NP_005700.2:n.1647-262_1647-261insTCT
NR_123738.2:n.1682-262_1682-261insTCT