Canonical Allele Identifier: CA2650526945
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215779962-TGCAGAGCCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779963_215779971del , CM000663.2:g.215779963_215779971del GRCh38
NC_000001.10:g.215953305_215953313del , CM000663.1:g.215953305_215953313del GRCh37
NC_000001.9:g.214019928_214019936del NCBI36
NG_009497.1:g.648426_648434del
NG_009497.2:g.648478_648486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10811_10819del MANE Select ENSP00000305941.3:p.Val3604_His3607delinsAsp
ENST00000674083.1:c.10811_10819del ENSP00000501296.1:p.Val3604_His3607delinsAsp
ENST00000307340.7:c.10811_10819del ENSP00000305941.3:p.Val3604_His3607delinsAsp
NM_206933.2:c.10811_10819del NP_996816.2:p.Val3604_His3607delinsAsp
NM_206933.3:c.10811_10819del NP_996816.2:p.Val3604_His3607delinsAsp
NM_206933.4:c.10811_10819del MANE Select NP_996816.3:p.Val3604_His3607delinsAsp
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