Canonical Allele Identifier: CA913072748
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215844548_215844549del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671206_215671207del , CM000663.2:g.215671206_215671207del GRCh38
NC_000001.10:g.215844548_215844549del , CM000663.1:g.215844548_215844549del GRCh37
NC_000001.9:g.213911171_213911172del NCBI36
NG_009497.1:g.757190_757191del
NG_009497.2:g.757242_757243del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13898_13899del MANE Select ENSP00000305941.3:p.Leu4633TyrfsTer?
ENST00000674083.1:c.13898_13899del ENSP00000501296.1:p.Leu4633TyrfsTer?
ENST00000307340.7:c.13898_13899del ENSP00000305941.3:p.Leu4633TyrfsTer?
NM_206933.2:c.13898_13899del NP_996816.2:p.Leu4633TyrfsTer?
NM_206933.3:c.13898_13899del NP_996816.2:p.Leu4633TyrfsTer?
NM_206933.4:c.13898_13899del MANE Select NP_996816.3:p.Leu4633TyrfsTer?
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