Canonical Allele Identifier: CA2747724424
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867278_215867279insACG , CM000663.2:g.215867278_215867279insACG GRCh38
NC_000001.10:g.216040620_216040621insACG , CM000663.1:g.216040620_216040621insACG GRCh37
NC_000001.9:g.214107243_214107244insACG NCBI36
NG_009497.1:g.561118_561119insCGT
NG_009497.2:g.561170_561171insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-109_8682-108insCGT MANE Select ENSP00000305941.3:n.8682-109_8682-108insCGT
ENST00000674083.1:c.8682-109_8682-108insCGT ENSP00000501296.1:n.8682-109_8682-108insCGT
ENST00000307340.7:c.8682-109_8682-108insCGT ENSP00000305941.3:n.8682-109_8682-108insCGT
NM_206933.2:c.8682-109_8682-108insCGT NP_996816.2:n.8682-109_8682-108insCGT
NM_206933.3:c.8682-109_8682-108insCGT NP_996816.2:n.8682-109_8682-108insCGT
NM_206933.4:c.8682-109_8682-108insCGT MANE Select NP_996816.3:n.8682-109_8682-108insCGT
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