Canonical Allele Identifier: CA1220434311
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817037_215817040delinsTCAG , CM000663.2:g.215817037_215817040delinsTCAG GRCh38
NC_000001.10:g.215990379_215990382delinsTCAG , CM000663.1:g.215990379_215990382delinsTCAG GRCh37
NC_000001.9:g.214057002_214057005delinsTCAG NCBI36
NG_009497.1:g.611357_611360delinsCTGA
NG_009497.2:g.611409_611412delinsCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9527_9530delinsCTGA MANE Select ENSP00000305941.3:p.Pro3176=
ENST00000674083.1:c.9527_9530delinsCTGA ENSP00000501296.1:p.Pro3176=
ENST00000307340.7:c.9527_9530delinsCTGA ENSP00000305941.3:p.Pro3176=
NM_206933.2:c.9527_9530delinsCTGA NP_996816.2:p.Pro3176=
NM_206933.3:c.9527_9530delinsCTGA NP_996816.2:p.Pro3176=
NM_206933.4:c.9527_9530delinsCTGA MANE Select NP_996816.3:p.Pro3176=
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