Canonical Allele Identifier: CA1220619105
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246744_216246745delinsGC , CM000663.2:g.216246744_216246745delinsGC GRCh38
NC_000001.10:g.216420086_216420087delinsGC , CM000663.1:g.216420086_216420087delinsGC GRCh37
NC_000001.9:g.214486709_214486710delinsGC NCBI36
NG_009497.1:g.181652_181653delinsGC
NG_009497.2:g.181704_181705delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2649_2650delinsGC MANE Select ENSP00000305941.3:p.Glu883=
ENST00000674083.1:c.2649_2650delinsGC ENSP00000501296.1:p.Glu883=
ENST00000307340.7:c.2649_2650delinsGC ENSP00000305941.3:p.Glu883=
ENST00000366942.3:c.2649_2650delinsGC ENSP00000355909.3:p.Glu883=
NM_007123.5:c.2649_2650delinsGC NP_009054.5:p.Glu883=
NM_206933.2:c.2649_2650delinsGC NP_996816.2:p.Glu883=
NM_206933.3:c.2649_2650delinsGC NP_996816.2:p.Glu883=
NM_007123.6:c.2649_2650delinsGC NP_009054.6:p.Glu883=
NM_206933.4:c.2649_2650delinsGC MANE Select NP_996816.3:p.Glu883=
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