Canonical Allele Identifier: CA1012201753
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v3: 1-215728584-C-CACACACAG
gnomAD v4: 1-215728584-C-CACACACAG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728591_215728592insGACACACA , CM000663.2:g.215728591_215728592insGACACACA GRCh38
NC_000001.10:g.215901933_215901934insGACACACA , CM000663.1:g.215901933_215901934insGACACACA GRCh37
NC_000001.9:g.213968556_213968557insGACACACA NCBI36
NG_009497.1:g.699812_699813insCTGTGTGT
NG_009497.2:g.699864_699865insCTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-201_11712-200insCTGTGTGT MANE Select ENSP00000305941.3:n.11712-201_11712-200insCTGTGTGT
ENST00000674083.1:c.11712-201_11712-200insCTGTGTGT ENSP00000501296.1:n.11712-201_11712-200insCTGTGTGT
ENST00000307340.7:c.11712-201_11712-200insCTGTGTGT ENSP00000305941.3:n.11712-201_11712-200insCTGTGTGT
NM_206933.2:c.11712-201_11712-200insCTGTGTGT NP_996816.2:n.11712-201_11712-200insCTGTGTGT
NM_206933.3:c.11712-201_11712-200insCTGTGTGT NP_996816.2:n.11712-201_11712-200insCTGTGTGT
NM_206933.4:c.11712-201_11712-200insCTGTGTGT MANE Select NP_996816.3:n.11712-201_11712-200insCTGTGTGT
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