Canonical Allele Identifier: CA2747722474
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816929_215816961del , CM000663.2:g.215816929_215816961del GRCh38
NC_000001.10:g.215990271_215990303del , CM000663.1:g.215990271_215990303del GRCh37
NC_000001.9:g.214056894_214056926del NCBI36
NG_009497.1:g.611443_611475del
NG_009497.2:g.611495_611527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+43_9570+75del MANE Select ENSP00000305941.3:n.9570+43_9570+75del
ENST00000674083.1:c.9570+43_9570+75del ENSP00000501296.1:n.9570+43_9570+75del
ENST00000307340.7:c.9570+43_9570+75del ENSP00000305941.3:n.9570+43_9570+75del
NM_206933.2:c.9570+43_9570+75del NP_996816.2:n.9570+43_9570+75del
NM_206933.3:c.9570+43_9570+75del NP_996816.2:n.9570+43_9570+75del
NM_206933.4:c.9570+43_9570+75del MANE Select NP_996816.3:n.9570+43_9570+75del
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