Canonical Allele Identifier: CA2790591871
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494506_17494507insACG , CM000673.2:g.17494506_17494507insACG GRCh38
NC_000011.9:g.17516053_17516054insACG , CM000673.1:g.17516053_17516054insACG GRCh37
NC_000011.8:g.17472629_17472630insACG NCBI36
NG_011883.1:g.54910_54911insCGT
NG_011883.2:g.54910_54911insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-131_2656-130insCGT MANE Select ENSP00000005226.7:n.2656-131_2656-130insCGT
ENST00000318024.9:c.1647-131_1647-130insCGT MANE Plus Clinical ENSP00000317018.4:n.1647-131_1647-130insCGT
ENST00000005226.11:c.2656-131_2656-130insCGT ENSP00000005226.7:n.2656-131_2656-130insCGT
ENST00000318024.8:c.1647-131_1647-130insCGT ENSP00000317018.4:n.1647-131_1647-130insCGT
ENST00000526313.5:c.*361-131_*361-130insCGT ENSP00000432236.1:n.*361-131_*361-130insCGT
ENST00000527020.5:c.1590-131_1590-130insCGT ENSP00000436934.1:n.1590-131_1590-130insCGT
ENST00000527551.1:n.157-131_157-130insCGT
ENST00000527720.5:c.1554-131_1554-130insCGT ENSP00000432944.1:n.1554-131_1554-130insCGT
ENST00000529563.5:n.531-131_531-130insCGT
ENST00000624811.1:n.587_588insCGT
NM_001297764.1:c.1590-131_1590-130insCGT NP_001284693.1:n.1590-131_1590-130insCGT
NM_005709.3:c.1647-131_1647-130insCGT NP_005700.2:n.1647-131_1647-130insCGT
NM_153676.3:c.2656-131_2656-130insCGT NP_710142.1:n.2656-131_2656-130insCGT
NR_123738.1:n.1682-131_1682-130insCGT
XM_011519831.1:c.2571-131_2571-130insCGT XP_011518133.1:n.2571-131_2571-130insCGT
XM_011519832.1:c.1800-131_1800-130insCGT XP_011518134.1:n.1800-131_1800-130insCGT
XM_011519832.3:c.1800-131_1800-130insCGT XP_011518134.1:n.1800-131_1800-130insCGT
XM_017017075.1:c.*846_*847insCGT XP_016872564.1:n.*846_*847insCGT
XR_001747717.2:n.1806-131_1806-130insCGT
NM_153676.4:c.2656-131_2656-130insCGT MANE Select NP_710142.1:n.2656-131_2656-130insCGT
NM_001297764.2:c.1590-131_1590-130insCGT NP_001284693.1:n.1590-131_1590-130insCGT
NM_005709.4:c.1647-131_1647-130insCGT MANE Plus Clinical NP_005700.2:n.1647-131_1647-130insCGT
NR_123738.2:n.1682-131_1682-130insCGT