Canonical Allele Identifier: CA2580062254
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2126587
ClinVar RCV Id: RCV003047367
gnomAD v4: 1-215675163-AGGTAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675165_215675169del , CM000663.2:g.215675165_215675169del GRCh38
NC_000001.10:g.215848507_215848511del , CM000663.1:g.215848507_215848511del GRCh37
NC_000001.9:g.213915130_213915134del NCBI36
NG_009497.1:g.753229_753233del
NG_009497.2:g.753281_753285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12743_12747del MANE Select ENSP00000305941.3:p.His4248LeufsTer2
ENST00000674083.1:c.12743_12747del ENSP00000501296.1:p.His4248LeufsTer2
ENST00000307340.7:c.12743_12747del ENSP00000305941.3:p.His4248LeufsTer2
NM_206933.2:c.12743_12747del NP_996816.2:p.His4248LeufsTer2
NM_206933.3:c.12743_12747del NP_996816.2:p.His4248LeufsTer2
NM_206933.4:c.12743_12747del MANE Select NP_996816.3:p.His4248LeufsTer2
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