Canonical Allele Identifier: CA1012185363
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v3: 1-215640869-C-CAAA
gnomAD v4: 1-215640869-C-CAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640871_215640872insAAA , CM000663.2:g.215640871_215640872insAAA GRCh38
NC_000001.10:g.215814213_215814214insAAA , CM000663.1:g.215814213_215814214insAAA GRCh37
NC_000001.9:g.213880836_213880837insAAA NCBI36
NG_009497.1:g.787527_787528insTTT
NG_009497.2:g.787579_787580insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-136_14792-135insTTT MANE Select ENSP00000305941.3:n.14792-136_14792-135insTTT
ENST00000674083.1:c.14792-136_14792-135insTTT ENSP00000501296.1:n.14792-136_14792-135insTTT
ENST00000307340.7:c.14792-136_14792-135insTTT ENSP00000305941.3:n.14792-136_14792-135insTTT
NM_206933.2:c.14792-136_14792-135insTTT NP_996816.2:n.14792-136_14792-135insTTT
NM_206933.3:c.14792-136_14792-135insTTT NP_996816.2:n.14792-136_14792-135insTTT
NM_206933.4:c.14792-136_14792-135insTTT MANE Select NP_996816.3:n.14792-136_14792-135insTTT
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