Canonical Allele Identifier: CA1220396669
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1659900846
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728586_215728587insGCACACAC , CM000663.2:g.215728586_215728587insGCACACAC GRCh38
NC_000001.10:g.215901928_215901929insGCACACAC , CM000663.1:g.215901928_215901929insGCACACAC GRCh37
NC_000001.9:g.213968551_213968552insGCACACAC NCBI36
NG_009497.1:g.699814_699815insGTGCGTGT
NG_009497.2:g.699866_699867insGTGCGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-199_11712-198insGTGCGTGT MANE Select ENSP00000305941.3:n.11712-199_11712-198insGTGCGTGT
ENST00000674083.1:c.11712-199_11712-198insGTGCGTGT ENSP00000501296.1:n.11712-199_11712-198insGTGCGTGT
ENST00000307340.7:c.11712-199_11712-198insGTGCGTGT ENSP00000305941.3:n.11712-199_11712-198insGTGCGTGT
NM_206933.2:c.11712-199_11712-198insGTGCGTGT NP_996816.2:n.11712-199_11712-198insGTGCGTGT
NM_206933.3:c.11712-199_11712-198insGTGCGTGT NP_996816.2:n.11712-199_11712-198insGTGCGTGT
NM_206933.4:c.11712-199_11712-198insGTGCGTGT MANE Select NP_996816.3:n.11712-199_11712-198insGTGCGTGT
Search 100 bp 5'
Search 100 bp 3'