Canonical Allele Identifier: CA1220652425
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324153_216324154delinsTA , CM000663.2:g.216324153_216324154delinsTA GRCh38
NC_000001.10:g.216497495_216497496delinsTA , CM000663.1:g.216497495_216497496delinsTA GRCh37
NC_000001.9:g.214564118_214564119delinsTA NCBI36
NG_009497.1:g.104243_104244delinsTA
NG_009497.2:g.104295_104296delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1328+14_1328+15delinsTA MANE Select ENSP00000305941.3:n.1328+14_1328+15delins...
ENST00000674083.1:c.1328+14_1328+15delinsTA ENSP00000501296.1:n.1328+14_1328+15delins...
ENST00000307340.7:c.1328+14_1328+15delinsTA ENSP00000305941.3:n.1328+14_1328+15delins...
ENST00000366942.3:c.1328+14_1328+15delinsTA ENSP00000355909.3:n.1328+14_1328+15delins...
NM_007123.5:c.1328+14_1328+15delinsTA NP_009054.5:n.1328+14_1328+15delinsTA
NM_206933.2:c.1328+14_1328+15delinsTA NP_996816.2:n.1328+14_1328+15delinsTA
NM_206933.3:c.1328+14_1328+15delinsTA NP_996816.2:n.1328+14_1328+15delinsTA
NM_007123.6:c.1328+14_1328+15delinsTA NP_009054.6:n.1328+14_1328+15delinsTA
NM_206933.4:c.1328+14_1328+15delinsTA MANE Select NP_996816.3:n.1328+14_1328+15delinsTA
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