Canonical Allele Identifier: CA2650498178
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215640840-CAAACAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640844_215640849del , CM000663.2:g.215640844_215640849del GRCh38
NC_000001.10:g.215814186_215814191del , CM000663.1:g.215814186_215814191del GRCh37
NC_000001.9:g.213880809_213880814del NCBI36
NG_009497.1:g.787551_787556del
NG_009497.2:g.787603_787608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-112_14792-107del MANE Select ENSP00000305941.3:n.14792-112_14792-107del
ENST00000674083.1:c.14792-112_14792-107del ENSP00000501296.1:n.14792-112_14792-107del
ENST00000307340.7:c.14792-112_14792-107del ENSP00000305941.3:n.14792-112_14792-107del
NM_206933.2:c.14792-112_14792-107del NP_996816.2:n.14792-112_14792-107del
NM_206933.3:c.14792-112_14792-107del NP_996816.2:n.14792-112_14792-107del
NM_206933.4:c.14792-112_14792-107del MANE Select NP_996816.3:n.14792-112_14792-107del
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