Canonical Allele Identifier: CA2650504862
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867170_215867175del , CM000663.2:g.215867170_215867175del GRCh38
NC_000001.10:g.216040512_216040517del , CM000663.1:g.216040512_216040517del GRCh37
NC_000001.9:g.214107135_214107140del NCBI36
NG_009497.1:g.561226_561231del
NG_009497.2:g.561278_561283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-1_8686del
ENST00000674083.1:c.8682-1_8686del
ENST00000307340.7:c.8682-1_8686del
NM_206933.2:c.8682-1_8686del
NM_206933.3:c.8682-1_8686del
NM_206933.4:c.8682-1_8686del