Canonical Allele Identifier: CA1220455739
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867228_215867232delinsCAAAT , CM000663.2:g.215867228_215867232delinsCAAAT GRCh38
NC_000001.10:g.216040570_216040574delinsCAAAT , CM000663.1:g.216040570_216040574delinsCAAAT GRCh37
NC_000001.9:g.214107193_214107197delinsCAAAT NCBI36
NG_009497.1:g.561165_561169delinsATTTG
NG_009497.2:g.561217_561221delinsATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-62_8682-58delinsATTTG MANE Select ENSP00000305941.3:n.8682-62_8682-58delinsATTTG
ENST00000674083.1:c.8682-62_8682-58delinsATTTG ENSP00000501296.1:n.8682-62_8682-58delinsATTTG
ENST00000307340.7:c.8682-62_8682-58delinsATTTG ENSP00000305941.3:n.8682-62_8682-58delinsATTTG
NM_206933.2:c.8682-62_8682-58delinsATTTG NP_996816.2:n.8682-62_8682-58delinsATTTG
NM_206933.3:c.8682-62_8682-58delinsATTTG NP_996816.2:n.8682-62_8682-58delinsATTTG
NM_206933.4:c.8682-62_8682-58delinsATTTG MANE Select NP_996816.3:n.8682-62_8682-58delinsATTTG