Canonical Allele Identifier: CA37437453
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs111033428

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782187_215782197del , CM000663.2:g.215782187_215782197del GRCh38
NC_000001.10:g.215955529_215955539del , CM000663.1:g.215955529_215955539del GRCh37
NC_000001.9:g.214022152_214022162del NCBI36
NG_009497.1:g.646200_646210del
NG_009497.2:g.646252_646262del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10586-1_10595del
ENST00000674083.1:c.10586-1_10595del
ENST00000307340.7:c.10586-1_10595del
NM_206933.2:c.10586-1_10595del
NM_206933.3:c.10586-1_10595del
NM_206933.4:c.10586-1_10595del