Canonical Allele Identifier: CA1220455766
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867290_215867291delinsGT , CM000663.2:g.215867290_215867291delinsGT GRCh38
NC_000001.10:g.216040632_216040633delinsGT , CM000663.1:g.216040632_216040633delinsGT GRCh37
NC_000001.9:g.214107255_214107256delinsGT NCBI36
NG_009497.1:g.561106_561107delinsAC
NG_009497.2:g.561158_561159delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-121_8682-120delinsAC MANE Select ENSP00000305941.3:n.8682-121_8682-120delinsAC
ENST00000674083.1:c.8682-121_8682-120delinsAC ENSP00000501296.1:n.8682-121_8682-120delinsAC
ENST00000307340.7:c.8682-121_8682-120delinsAC ENSP00000305941.3:n.8682-121_8682-120delinsAC
NM_206933.2:c.8682-121_8682-120delinsAC NP_996816.2:n.8682-121_8682-120delinsAC
NM_206933.3:c.8682-121_8682-120delinsAC NP_996816.2:n.8682-121_8682-120delinsAC
NM_206933.4:c.8682-121_8682-120delinsAC MANE Select NP_996816.3:n.8682-121_8682-120delinsAC
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