Canonical Allele Identifier: CA2747735793
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247121_216247122insCAACAAACCAAACACACCCAACAC , CM000663.2:g.216247121_216247122insCAACAAACCAAACACACCCAACAC GRCh38
NC_000001.10:g.216420463_216420464insCAACAAACCAAACACACCCAACAC , CM000663.1:g.216420463_216420464insCAACAAACCAAACACACCCAACAC GRCh37
NC_000001.9:g.214487086_214487087insCAACAAACCAAACACACCCAACAC NCBI36
NG_009497.1:g.181275_181276insGTGTTGGGTGTGTTTGGTTTGTTG
NG_009497.2:g.181327_181328insGTGTTGGGTGTGTTTGGTTTGTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG MANE Select ENSP00000305941.3:p.Phe758delinsCysValGlyCysValTrpPheValVal
ENST00000674083.1:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG ENSP00000501296.1:p.Phe758delinsCysValGlyCysValTrpPheValVal
ENST00000307340.7:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG ENSP00000305941.3:p.Phe758delinsCysValGlyCysValTrpPheValVal
ENST00000366942.3:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG ENSP00000355909.3:p.Phe758delinsCysValGlyCysValTrpPheValVal
NM_007123.5:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG NP_009054.5:p.Phe758delinsCysValGlyCysValTrpPheValVal
NM_206933.2:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG NP_996816.2:p.Phe758delinsCysValGlyCysValTrpPheValVal
NM_206933.3:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG NP_996816.2:p.Phe758delinsCysValGlyCysValTrpPheValVal
NM_007123.6:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG NP_009054.6:p.Phe758delinsCysValGlyCysValTrpPheValVal
NM_206933.4:c.2272_2273insGTGTTGGGTGTGTTTGGTTTGTTG MANE Select NP_996816.3:p.Phe758delinsCysValGlyCysValTrpPheValVal
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