Canonical Allele Identifier: CA2586968188
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817072_215817078del , CM000663.2:g.215817072_215817078del GRCh38
NC_000001.10:g.215990414_215990420del , CM000663.1:g.215990414_215990420del GRCh37
NC_000001.9:g.214057037_214057043del NCBI36
NG_009497.1:g.611322_611328del
NG_009497.2:g.611374_611380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9492_9498del MANE Select ENSP00000305941.3:p.Asp3165SerfsTer5
ENST00000674083.1:c.9492_9498del ENSP00000501296.1:p.Asp3165SerfsTer5
ENST00000307340.7:c.9492_9498del ENSP00000305941.3:p.Asp3165SerfsTer5
NM_206933.2:c.9492_9498del NP_996816.2:p.Asp3165SerfsTer5
NM_206933.3:c.9492_9498del NP_996816.2:p.Asp3165SerfsTer5
NM_206933.4:c.9492_9498del MANE Select NP_996816.3:p.Asp3165SerfsTer5
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