Canonical Allele Identifier: CA1220396634
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728514_215728534delinsTAGTAAAGAAAAACCAGATGG , CM000663.2:g.215728514_215728534delinsTAGTAAAGAAAAACCAGATGG GRCh38
NC_000001.10:g.215901856_215901876delinsTAGTAAAGAAAAACCAGATGG , CM000663.1:g.215901856_215901876delinsTAGTAAAGAAAAACCAGATGG GRCh37
NC_000001.9:g.213968479_213968499delinsTAGTAAAGAAAAACCAGATGG NCBI36
NG_009497.1:g.699863_699883delinsCCATCTGGTTTTTCTTTACTA
NG_009497.2:g.699915_699935delinsCCATCTGGTTTTTCTTTACTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA MANE Select ENSP00000305941.3:n.11712-150_11712-130delinsCCATCTGGTTTTTCTT...
ENST00000674083.1:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA ENSP00000501296.1:n.11712-150_11712-130delinsCCATCTGGTTTTTCTT...
ENST00000307340.7:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA ENSP00000305941.3:n.11712-150_11712-130delinsCCATCTGGTTTTTCTT...
NM_206933.2:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA NP_996816.2:n.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA
NM_206933.3:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA NP_996816.2:n.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA
NM_206933.4:c.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA MANE Select NP_996816.3:n.11712-150_11712-130delinsCCATCTGGTTTTTCTTTACTA
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