Canonical Allele Identifier: CA2650512853
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216246830-ATTGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246831_216246834del , CM000663.2:g.216246831_216246834del GRCh38
NC_000001.10:g.216420173_216420176del , CM000663.1:g.216420173_216420176del GRCh37
NC_000001.9:g.214486796_214486799del NCBI36
NG_009497.1:g.181563_181566del
NG_009497.2:g.181615_181618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2560_2563del MANE Select ENSP00000305941.3:p.Thr854Ter
ENST00000674083.1:c.2560_2563del ENSP00000501296.1:p.Thr854Ter
ENST00000307340.7:c.2560_2563del ENSP00000305941.3:p.Thr854Ter
ENST00000366942.3:c.2560_2563del ENSP00000355909.3:p.Thr854Ter
NM_007123.5:c.2560_2563del NP_009054.5:p.Thr854Ter
NM_206933.2:c.2560_2563del NP_996816.2:p.Thr854Ter
NM_206933.3:c.2560_2563del NP_996816.2:p.Thr854Ter
NM_007123.6:c.2560_2563del NP_009054.6:p.Thr854Ter
NM_206933.4:c.2560_2563del MANE Select NP_996816.3:p.Thr854Ter
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