Canonical Allele Identifier: CA2586968146
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728256dup , CM000663.2:g.215728256dup GRCh38
NC_000001.10:g.215901598dup , CM000663.1:g.215901598dup GRCh37
NC_000001.9:g.213968221dup NCBI36
NG_009497.1:g.700142dup
NG_009497.2:g.700194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11841dup MANE Select ENSP00000305941.3:p.Lys3948GlnfsTer?
ENST00000674083.1:c.11841dup ENSP00000501296.1:p.Lys3948GlnfsTer?
ENST00000307340.7:c.11841dup ENSP00000305941.3:p.Lys3948GlnfsTer?
NM_206933.2:c.11841dup NP_996816.2:p.Lys3948GlnfsTer?
NM_206933.3:c.11841dup NP_996816.2:p.Lys3948GlnfsTer?
NM_206933.4:c.11841dup MANE Select NP_996816.3:p.Lys3948GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'