Canonical Allele Identifier: CA1220455744
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867234_215867235delinsAT , CM000663.2:g.215867234_215867235delinsAT GRCh38
NC_000001.10:g.216040576_216040577delinsAT , CM000663.1:g.216040576_216040577delinsAT GRCh37
NC_000001.9:g.214107199_214107200delinsAT NCBI36
NG_009497.1:g.561162_561163delinsAT
NG_009497.2:g.561214_561215delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-65_8682-64delinsAT MANE Select ENSP00000305941.3:n.8682-65_8682-64delinsAT
ENST00000674083.1:c.8682-65_8682-64delinsAT ENSP00000501296.1:n.8682-65_8682-64delinsAT
ENST00000307340.7:c.8682-65_8682-64delinsAT ENSP00000305941.3:n.8682-65_8682-64delinsAT
NM_206933.2:c.8682-65_8682-64delinsAT NP_996816.2:n.8682-65_8682-64delinsAT
NM_206933.3:c.8682-65_8682-64delinsAT NP_996816.2:n.8682-65_8682-64delinsAT
NM_206933.4:c.8682-65_8682-64delinsAT MANE Select NP_996816.3:n.8682-65_8682-64delinsAT
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