Canonical Allele Identifier: CA1012179164
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1657982307
gnomAD v3: 1-215675279-ATTT-A
gnomAD v4: 1-215675279-ATTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675281_215675283del , CM000663.2:g.215675281_215675283del GRCh38
NC_000001.10:g.215848623_215848625del , CM000663.1:g.215848623_215848625del GRCh37
NC_000001.9:g.213915246_213915248del NCBI36
NG_009497.1:g.753115_753117del
NG_009497.2:g.753167_753169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12629_12631del MANE Select ENSP00000305941.3:p.Lys4210del
ENST00000674083.1:c.12629_12631del ENSP00000501296.1:p.Lys4210del
ENST00000307340.7:c.12629_12631del ENSP00000305941.3:p.Lys4210del
NM_206933.2:c.12629_12631del NP_996816.2:p.Lys4210del
NM_206933.3:c.12629_12631del NP_996816.2:p.Lys4210del
NM_206933.4:c.12629_12631del MANE Select NP_996816.3:p.Lys4210del
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