Canonical Allele Identifier: CA913072778
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779936_215779940del , CM000663.2:g.215779936_215779940del GRCh38
NC_000001.10:g.215953278_215953282del , CM000663.1:g.215953278_215953282del GRCh37
NC_000001.9:g.214019901_214019905del NCBI36
NG_009497.1:g.648457_648461del
NG_009497.2:g.648509_648513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10842_10846del MANE Select ENSP00000305941.3:p.Glu3614AspfsTer6
ENST00000674083.1:c.10842_10846del ENSP00000501296.1:p.Glu3614AspfsTer6
ENST00000307340.7:c.10842_10846del ENSP00000305941.3:p.Glu3614AspfsTer6
NM_206933.2:c.10842_10846del NP_996816.2:p.Glu3614AspfsTer6
NM_206933.3:c.10842_10846del NP_996816.2:p.Glu3614AspfsTer6
NM_206933.4:c.10842_10846del MANE Select NP_996816.3:p.Glu3614AspfsTer6