Canonical Allele Identifier: CA916082117
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 865868
ClinVar RCV Id: RCV001073413 RCV002067731 RCV002557893 RCV003455319
dbSNP Id: rs1657997491
gnomAD v4: 1-215675606-ATGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675610_215675612del , CM000663.2:g.215675610_215675612del GRCh38
NC_000001.10:g.215848952_215848954del , CM000663.1:g.215848952_215848954del GRCh37
NC_000001.9:g.213915575_213915577del NCBI36
NG_009497.1:g.752788_752790del
NG_009497.2:g.752840_752842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12302_12304del MANE Select ENSP00000305941.3:p.Asn4101del
ENST00000674083.1:c.12302_12304del ENSP00000501296.1:p.Asn4101del
ENST00000307340.7:c.12302_12304del ENSP00000305941.3:p.Asn4101del
NM_206933.2:c.12302_12304del NP_996816.2:p.Asn4101del
NM_206933.3:c.12302_12304del NP_996816.2:p.Asn4101del
NM_206933.4:c.12302_12304del MANE Select NP_996816.3:p.Asn4101del
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