Canonical Allele Identifier: CA2747717669
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675570_215675571del , CM000663.2:g.215675570_215675571del GRCh38
NC_000001.10:g.215848912_215848913del , CM000663.1:g.215848912_215848913del GRCh37
NC_000001.9:g.213915535_213915536del NCBI36
NG_009497.1:g.752826_752827del
NG_009497.2:g.752878_752879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12340_12341del MANE Select ENSP00000305941.3:p.Asn4114SerfsTer?
ENST00000674083.1:c.12340_12341del ENSP00000501296.1:p.Asn4114SerfsTer?
ENST00000307340.7:c.12340_12341del ENSP00000305941.3:p.Asn4114SerfsTer?
NM_206933.2:c.12340_12341del NP_996816.2:p.Asn4114SerfsTer?
NM_206933.3:c.12340_12341del NP_996816.2:p.Asn4114SerfsTer?
NM_206933.4:c.12340_12341del MANE Select NP_996816.3:p.Asn4114SerfsTer?
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