Canonical Allele Identifier: CA1220455740
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867228_215867229delinsCA , CM000663.2:g.215867228_215867229delinsCA GRCh38
NC_000001.10:g.216040570_216040571delinsCA , CM000663.1:g.216040570_216040571delinsCA GRCh37
NC_000001.9:g.214107193_214107194delinsCA NCBI36
NG_009497.1:g.561168_561169delinsTG
NG_009497.2:g.561220_561221delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-59_8682-58delinsTG MANE Select ENSP00000305941.3:n.8682-59_8682-58delinsTG
ENST00000674083.1:c.8682-59_8682-58delinsTG ENSP00000501296.1:n.8682-59_8682-58delinsTG
ENST00000307340.7:c.8682-59_8682-58delinsTG ENSP00000305941.3:n.8682-59_8682-58delinsTG
NM_206933.2:c.8682-59_8682-58delinsTG NP_996816.2:n.8682-59_8682-58delinsTG
NM_206933.3:c.8682-59_8682-58delinsTG NP_996816.2:n.8682-59_8682-58delinsTG
NM_206933.4:c.8682-59_8682-58delinsTG MANE Select NP_996816.3:n.8682-59_8682-58delinsTG
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