Canonical Allele Identifier: CA2650498184
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215640840-C-CAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640843_215640844insAAAAAA , CM000663.2:g.215640843_215640844insAAAAAA GRCh38
NC_000001.10:g.215814185_215814186insAAAAAA , CM000663.1:g.215814185_215814186insAAAAAA GRCh37
NC_000001.9:g.213880808_213880809insAAAAAA NCBI36
NG_009497.1:g.787556_787557insTTTTTT
NG_009497.2:g.787608_787609insTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-107_14792-106insTTTTTT MANE Select ENSP00000305941.3:n.14792-107_14792-106insTTTTTT
ENST00000674083.1:c.14792-107_14792-106insTTTTTT ENSP00000501296.1:n.14792-107_14792-106insTTTTTT
ENST00000307340.7:c.14792-107_14792-106insTTTTTT ENSP00000305941.3:n.14792-107_14792-106insTTTTTT
NM_206933.2:c.14792-107_14792-106insTTTTTT NP_996816.2:n.14792-107_14792-106insTTTTTT
NM_206933.3:c.14792-107_14792-106insTTTTTT NP_996816.2:n.14792-107_14792-106insTTTTTT
NM_206933.4:c.14792-107_14792-106insTTTTTT MANE Select NP_996816.3:n.14792-107_14792-106insTTTTTT
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