Canonical Allele Identifier: CA1220396701
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728661_215728664delinsCAGA , CM000663.2:g.215728661_215728664delinsCAGA GRCh38
NC_000001.10:g.215902003_215902006delinsCAGA , CM000663.1:g.215902003_215902006delinsCAGA GRCh37
NC_000001.9:g.213968626_213968629delinsCAGA NCBI36
NG_009497.1:g.699733_699736delinsTCTG
NG_009497.2:g.699785_699788delinsTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-280_11712-277delinsTCTG MANE Select ENSP00000305941.3:n.11712-280_11712-277delinsTCTG
ENST00000674083.1:c.11712-280_11712-277delinsTCTG ENSP00000501296.1:n.11712-280_11712-277delinsTCTG
ENST00000307340.7:c.11712-280_11712-277delinsTCTG ENSP00000305941.3:n.11712-280_11712-277delinsTCTG
NM_206933.2:c.11712-280_11712-277delinsTCTG NP_996816.2:n.11712-280_11712-277delinsTCTG
NM_206933.3:c.11712-280_11712-277delinsTCTG NP_996816.2:n.11712-280_11712-277delinsTCTG
NM_206933.4:c.11712-280_11712-277delinsTCTG MANE Select NP_996816.3:n.11712-280_11712-277delinsTCTG
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