Canonical Allele Identifier: CA2586968182
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675454del , CM000663.2:g.215675454del GRCh38
NC_000001.10:g.215848796del , CM000663.1:g.215848796del GRCh37
NC_000001.9:g.213915419del NCBI36
NG_009497.1:g.752943del
NG_009497.2:g.752995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12457del MANE Select ENSP00000305941.3:p.Ala4153ProfsTer14
ENST00000674083.1:c.12457del ENSP00000501296.1:p.Ala4153ProfsTer14
ENST00000307340.7:c.12457del ENSP00000305941.3:p.Ala4153ProfsTer14
NM_206933.2:c.12457del NP_996816.2:p.Ala4153ProfsTer14
NM_206933.3:c.12457del NP_996816.2:p.Ala4153ProfsTer14
NM_206933.4:c.12457del MANE Select NP_996816.3:p.Ala4153ProfsTer14
Search 100 bp 5'
Search 100 bp 3'