Canonical Allele Identifier: CA2586968152
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728345_215728348del , CM000663.2:g.215728345_215728348del GRCh38
NC_000001.10:g.215901687_215901690del , CM000663.1:g.215901687_215901690del GRCh37
NC_000001.9:g.213968310_213968313del NCBI36
NG_009497.1:g.700051_700054del
NG_009497.2:g.700103_700106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11750_11753del MANE Select ENSP00000305941.3:p.Val3917GlyfsTer15
ENST00000674083.1:c.11750_11753del ENSP00000501296.1:p.Val3917GlyfsTer15
ENST00000307340.7:c.11750_11753del ENSP00000305941.3:p.Val3917GlyfsTer15
NM_206933.2:c.11750_11753del NP_996816.2:p.Val3917GlyfsTer15
NM_206933.3:c.11750_11753del NP_996816.2:p.Val3917GlyfsTer15
NM_206933.4:c.11750_11753del MANE Select NP_996816.3:p.Val3917GlyfsTer15
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