Canonical Allele Identifier: CA2747719136
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728491_215728492insACA , CM000663.2:g.215728491_215728492insACA GRCh38
NC_000001.10:g.215901833_215901834insACA , CM000663.1:g.215901833_215901834insACA GRCh37
NC_000001.9:g.213968456_213968457insACA NCBI36
NG_009497.1:g.699905_699906insTGT
NG_009497.2:g.699957_699958insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-108_11712-107insTGT MANE Select ENSP00000305941.3:n.11712-108_11712-107insTGT
ENST00000674083.1:c.11712-108_11712-107insTGT ENSP00000501296.1:n.11712-108_11712-107insTGT
ENST00000307340.7:c.11712-108_11712-107insTGT ENSP00000305941.3:n.11712-108_11712-107insTGT
NM_206933.2:c.11712-108_11712-107insTGT NP_996816.2:n.11712-108_11712-107insTGT
NM_206933.3:c.11712-108_11712-107insTGT NP_996816.2:n.11712-108_11712-107insTGT
NM_206933.4:c.11712-108_11712-107insTGT MANE Select NP_996816.3:n.11712-108_11712-107insTGT
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