Canonical Allele Identifier: CA1220619138
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246826_216246827delinsAT , CM000663.2:g.216246826_216246827delinsAT GRCh38
NC_000001.10:g.216420168_216420169delinsAT , CM000663.1:g.216420168_216420169delinsAT GRCh37
NC_000001.9:g.214486791_214486792delinsAT NCBI36
NG_009497.1:g.181570_181571delinsAT
NG_009497.2:g.181622_181623delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2567_2568delinsAT MANE Select ENSP00000305941.3:p.Asn856=
ENST00000674083.1:c.2567_2568delinsAT ENSP00000501296.1:p.Asn856=
ENST00000307340.7:c.2567_2568delinsAT ENSP00000305941.3:p.Asn856=
ENST00000366942.3:c.2567_2568delinsAT ENSP00000355909.3:p.Asn856=
NM_007123.5:c.2567_2568delinsAT NP_009054.5:p.Asn856=
NM_206933.2:c.2567_2568delinsAT NP_996816.2:p.Asn856=
NM_206933.3:c.2567_2568delinsAT NP_996816.2:p.Asn856=
NM_007123.6:c.2567_2568delinsAT NP_009054.6:p.Asn856=
NM_206933.4:c.2567_2568delinsAT MANE Select NP_996816.3:p.Asn856=
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