Canonical Allele Identifier: CA2580062111
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1726900
ClinVar RCV Id: RCV002310584
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246665_216246666del , CM000663.2:g.216246665_216246666del GRCh38
NC_000001.10:g.216420007_216420008del , CM000663.1:g.216420007_216420008del GRCh37
NC_000001.9:g.214486630_214486631del NCBI36
NG_009497.1:g.181732_181733del
NG_009497.2:g.181784_181785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2729_2730del MANE Select ENSP00000305941.3:p.Gly910AspfsTer4
ENST00000674083.1:c.2729_2730del ENSP00000501296.1:p.Gly910AspfsTer4
ENST00000307340.7:c.2729_2730del ENSP00000305941.3:p.Gly910AspfsTer4
ENST00000366942.3:c.2729_2730del ENSP00000355909.3:p.Gly910AspfsTer4
NM_007123.5:c.2729_2730del NP_009054.5:p.Gly910AspfsTer4
NM_206933.2:c.2729_2730del NP_996816.2:p.Gly910AspfsTer4
NM_206933.3:c.2729_2730del NP_996816.2:p.Gly910AspfsTer4
NM_007123.6:c.2729_2730del NP_009054.6:p.Gly910AspfsTer4
NM_206933.4:c.2729_2730del MANE Select NP_996816.3:p.Gly910AspfsTer4
Search 100 bp 5'
Search 100 bp 3'