Canonical Allele Identifier: CA2580062151
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2026055
ClinVar RCV Id: RCV002880719
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247144del , CM000663.2:g.216247144del GRCh38
NC_000001.10:g.216420486del , CM000663.1:g.216420486del GRCh37
NC_000001.9:g.214487109del NCBI36
NG_009497.1:g.181254del
NG_009497.2:g.181306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2251del MANE Select ENSP00000305941.3:p.Leu751SerfsTer5
ENST00000674083.1:c.2251del ENSP00000501296.1:p.Leu751SerfsTer5
ENST00000307340.7:c.2251del ENSP00000305941.3:p.Leu751SerfsTer5
ENST00000366942.3:c.2251del ENSP00000355909.3:p.Leu751SerfsTer5
NM_007123.5:c.2251del NP_009054.5:p.Leu751SerfsTer5
NM_206933.2:c.2251del NP_996816.2:p.Leu751SerfsTer5
NM_206933.3:c.2251del NP_996816.2:p.Leu751SerfsTer5
NM_007123.6:c.2251del NP_009054.6:p.Leu751SerfsTer5
NM_206933.4:c.2251del MANE Select NP_996816.3:p.Leu751SerfsTer5
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Search 100 bp 3'