Canonical Allele Identifier: CA2747719120
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728473_215728474insAC , CM000663.2:g.215728473_215728474insAC GRCh38
NC_000001.10:g.215901815_215901816insAC , CM000663.1:g.215901815_215901816insAC GRCh37
NC_000001.9:g.213968438_213968439insAC NCBI36
NG_009497.1:g.699923_699924insGT
NG_009497.2:g.699975_699976insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-90_11712-89insGT MANE Select ENSP00000305941.3:n.11712-90_11712-89insGT
ENST00000674083.1:c.11712-90_11712-89insGT ENSP00000501296.1:n.11712-90_11712-89insGT
ENST00000307340.7:c.11712-90_11712-89insGT ENSP00000305941.3:n.11712-90_11712-89insGT
NM_206933.2:c.11712-90_11712-89insGT NP_996816.2:n.11712-90_11712-89insGT
NM_206933.3:c.11712-90_11712-89insGT NP_996816.2:n.11712-90_11712-89insGT
NM_206933.4:c.11712-90_11712-89insGT MANE Select NP_996816.3:n.11712-90_11712-89insGT
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