Canonical Allele Identifier: CA2747722344
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215813909_215813938del , CM000663.2:g.215813909_215813938del GRCh38
NC_000001.10:g.215987251_215987280del , CM000663.1:g.215987251_215987280del GRCh37
NC_000001.9:g.214053874_214053903del NCBI36
NG_009497.1:g.614460_614489del
NG_009497.2:g.614512_614541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9571-33_9571-4del MANE Select ENSP00000305941.3:n.9571-33_9571-4del
ENST00000674083.1:c.9571-33_9571-4del ENSP00000501296.1:n.9571-33_9571-4del
ENST00000307340.7:c.9571-33_9571-4del ENSP00000305941.3:n.9571-33_9571-4del
NM_206933.2:c.9571-33_9571-4del NP_996816.2:n.9571-33_9571-4del
NM_206933.3:c.9571-33_9571-4del NP_996816.2:n.9571-33_9571-4del
NM_206933.4:c.9571-33_9571-4del MANE Select NP_996816.3:n.9571-33_9571-4del
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