Canonical Allele Identifier: CA658822036
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 553184
ClinVar RCV Id: RCV000668580 RCV001861768 RCV003451679 RCV003451680
dbSNP Id: rs1553265812
MyVariant Identifiers: chr1:g.215817038_215817040del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817038_215817040del , CM000663.2:g.215817038_215817040del GRCh38
NC_000001.10:g.215990380_215990382del , CM000663.1:g.215990380_215990382del GRCh37
NC_000001.9:g.214057003_214057005del NCBI36
NG_009497.1:g.611357_611359del
NG_009497.2:g.611409_611411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9527_9529del MANE Select ENSP00000305941.3:p.Pro3176_Glu3177delinsGln
ENST00000674083.1:c.9527_9529del ENSP00000501296.1:p.Pro3176_Glu3177delinsGln
ENST00000307340.7:c.9527_9529del ENSP00000305941.3:p.Pro3176_Glu3177delinsGln
NM_206933.2:c.9527_9529del NP_996816.2:p.Pro3176_Glu3177delinsGln
NM_206933.3:c.9527_9529del NP_996816.2:p.Pro3176_Glu3177delinsGln
NM_206933.4:c.9527_9529del MANE Select NP_996816.3:p.Pro3176_Glu3177delinsGln
Search 100 bp 5'
Search 100 bp 3'