Canonical Allele Identifier: CA1393882
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1553261079
ExAC: 1:215953165 C / CA
gnomAD v2: 1-215953165-C-CA
gnomAD v3: 1-215779823-C-CA
gnomAD v4: 1-215779823-C-CA
MyVariant Identifiers: chr1:g.215953165_215953166insA (hg19) chr1:g.215953166delinsAT (hg19) chr1:g.215779823_215779824insA (hg38) chr1:g.215779824delinsAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779823_215779824insA , CM000663.2:g.215779823_215779824insA GRCh38
NC_000001.10:g.215953165_215953166insA , CM000663.1:g.215953165_215953166insA GRCh37
NC_000001.9:g.214019788_214019789insA NCBI36
NG_009497.1:g.648573_648574insT
NG_009497.2:g.648625_648626insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+19_10939+20insT MANE Select ENSP00000305941.3:n.10939+19_10939+20insT
ENST00000674083.1:c.10939+19_10939+20insT ENSP00000501296.1:n.10939+19_10939+20insT
ENST00000307340.7:c.10939+19_10939+20insT ENSP00000305941.3:n.10939+19_10939+20insT
NM_206933.2:c.10939+19_10939+20insT NP_996816.2:n.10939+19_10939+20insT
NM_206933.3:c.10939+19_10939+20insT NP_996816.2:n.10939+19_10939+20insT
NM_206933.4:c.10939+19_10939+20insT MANE Select NP_996816.3:n.10939+19_10939+20insT
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