Canonical Allele Identifier: CA1220372187
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671206_215671207delinsCA , CM000663.2:g.215671206_215671207delinsCA GRCh38
NC_000001.10:g.215844548_215844549delinsCA , CM000663.1:g.215844548_215844549delinsCA GRCh37
NC_000001.9:g.213911171_213911172delinsCA NCBI36
NG_009497.1:g.757190_757191delinsTG
NG_009497.2:g.757242_757243delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13898_13899delinsTG MANE Select ENSP00000305941.3:p.Leu4633=
ENST00000674083.1:c.13898_13899delinsTG ENSP00000501296.1:p.Leu4633=
ENST00000307340.7:c.13898_13899delinsTG ENSP00000305941.3:p.Leu4633=
NM_206933.2:c.13898_13899delinsTG NP_996816.2:p.Leu4633=
NM_206933.3:c.13898_13899delinsTG NP_996816.2:p.Leu4633=
NM_206933.4:c.13898_13899delinsTG MANE Select NP_996816.3:p.Leu4633=
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