Canonical Allele Identifier: CA1220414285
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779782_215779783delinsGC , CM000663.2:g.215779782_215779783delinsGC GRCh38
NC_000001.10:g.215953124_215953125delinsGC , CM000663.1:g.215953124_215953125delinsGC GRCh37
NC_000001.9:g.214019747_214019748delinsGC NCBI36
NG_009497.1:g.648614_648615delinsGC
NG_009497.2:g.648666_648667delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+60_10939+61delinsGC MANE Select ENSP00000305941.3:n.10939+60_10939+61delinsGC
ENST00000674083.1:c.10939+60_10939+61delinsGC ENSP00000501296.1:n.10939+60_10939+61delinsGC
ENST00000307340.7:c.10939+60_10939+61delinsGC ENSP00000305941.3:n.10939+60_10939+61delinsGC
NM_206933.2:c.10939+60_10939+61delinsGC NP_996816.2:n.10939+60_10939+61delinsGC
NM_206933.3:c.10939+60_10939+61delinsGC NP_996816.2:n.10939+60_10939+61delinsGC
NM_206933.4:c.10939+60_10939+61delinsGC MANE Select NP_996816.3:n.10939+60_10939+61delinsGC
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