Canonical Allele Identifier: CA2747719142
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728499_215728500insAG , CM000663.2:g.215728499_215728500insAG GRCh38
NC_000001.10:g.215901841_215901842insAG , CM000663.1:g.215901841_215901842insAG GRCh37
NC_000001.9:g.213968464_213968465insAG NCBI36
NG_009497.1:g.699897_699898insCT
NG_009497.2:g.699949_699950insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-116_11712-115insCT MANE Select ENSP00000305941.3:n.11712-116_11712-115insCT
ENST00000674083.1:c.11712-116_11712-115insCT ENSP00000501296.1:n.11712-116_11712-115insCT
ENST00000307340.7:c.11712-116_11712-115insCT ENSP00000305941.3:n.11712-116_11712-115insCT
NM_206933.2:c.11712-116_11712-115insCT NP_996816.2:n.11712-116_11712-115insCT
NM_206933.3:c.11712-116_11712-115insCT NP_996816.2:n.11712-116_11712-115insCT
NM_206933.4:c.11712-116_11712-115insCT MANE Select NP_996816.3:n.11712-116_11712-115insCT
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