Canonical Allele Identifier: CA2531373683
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675301_215675302insTGCT , CM000663.2:g.215675301_215675302insTGCT GRCh38
NC_000001.10:g.215848643_215848644insTGCT , CM000663.1:g.215848643_215848644insTGCT GRCh37
NC_000001.9:g.213915266_213915267insTGCT NCBI36
NG_009497.1:g.753096_753097insGCAA
NG_009497.2:g.753148_753149insGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12610_12611insGCAA MANE Select ENSP00000305941.3:p.Thr4204SerfsTer15
ENST00000674083.1:c.12610_12611insGCAA ENSP00000501296.1:p.Thr4204SerfsTer15
ENST00000307340.7:c.12610_12611insGCAA ENSP00000305941.3:p.Thr4204SerfsTer15
NM_206933.2:c.12610_12611insGCAA NP_996816.2:p.Thr4204SerfsTer15
NM_206933.3:c.12610_12611insGCAA NP_996816.2:p.Thr4204SerfsTer15
NM_206933.4:c.12610_12611insGCAA MANE Select NP_996816.3:p.Thr4204SerfsTer15
Search 100 bp 5'
Search 100 bp 3'