Canonical Allele Identifier: CA1220455745
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867235_215867238delinsTTTC , CM000663.2:g.215867235_215867238delinsTTTC GRCh38
NC_000001.10:g.216040577_216040580delinsTTTC , CM000663.1:g.216040577_216040580delinsTTTC GRCh37
NC_000001.9:g.214107200_214107203delinsTTTC NCBI36
NG_009497.1:g.561159_561162delinsGAAA
NG_009497.2:g.561211_561214delinsGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-68_8682-65delinsGAAA MANE Select ENSP00000305941.3:n.8682-68_8682-65delinsGAAA
ENST00000674083.1:c.8682-68_8682-65delinsGAAA ENSP00000501296.1:n.8682-68_8682-65delinsGAAA
ENST00000307340.7:c.8682-68_8682-65delinsGAAA ENSP00000305941.3:n.8682-68_8682-65delinsGAAA
NM_206933.2:c.8682-68_8682-65delinsGAAA NP_996816.2:n.8682-68_8682-65delinsGAAA
NM_206933.3:c.8682-68_8682-65delinsGAAA NP_996816.2:n.8682-68_8682-65delinsGAAA
NM_206933.4:c.8682-68_8682-65delinsGAAA MANE Select NP_996816.3:n.8682-68_8682-65delinsGAAA