Canonical Allele Identifier: CA645519366
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM4949304 COSM4949305
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671063_215671065del , CM000663.2:g.215671063_215671065del GRCh38
NC_000001.10:g.215844405_215844407del , CM000663.1:g.215844405_215844407del GRCh37
NC_000001.9:g.213911028_213911030del NCBI36
NG_009497.1:g.757332_757334del
NG_009497.2:g.757384_757386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14040_14042del MANE Select ENSP00000305941.3:p.Gln4680_Pro4681delinsHis
ENST00000674083.1:c.14040_14042del ENSP00000501296.1:p.Gln4680_Pro4681delinsHis
ENST00000307340.7:c.14040_14042del ENSP00000305941.3:p.Gln4680_Pro4681delinsHis
NM_206933.2:c.14040_14042del NP_996816.2:p.Gln4680_Pro4681delinsHis
NM_206933.3:c.14040_14042del NP_996816.2:p.Gln4680_Pro4681delinsHis
NM_206933.4:c.14040_14042del MANE Select NP_996816.3:p.Gln4680_Pro4681delinsHis
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