Canonical Allele Identifier: CA2650501677
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215728332-CTCCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728335_215728338del , CM000663.2:g.215728335_215728338del GRCh38
NC_000001.10:g.215901677_215901680del , CM000663.1:g.215901677_215901680del GRCh37
NC_000001.9:g.213968300_213968303del NCBI36
NG_009497.1:g.700061_700064del
NG_009497.2:g.700113_700116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11760_11763del MANE Select ENSP00000305941.3:p.Gly3921ProfsTer11
ENST00000674083.1:c.11760_11763del ENSP00000501296.1:p.Gly3921ProfsTer11
ENST00000307340.7:c.11760_11763del ENSP00000305941.3:p.Gly3921ProfsTer11
NM_206933.2:c.11760_11763del NP_996816.2:p.Gly3921ProfsTer11
NM_206933.3:c.11760_11763del NP_996816.2:p.Gly3921ProfsTer11
NM_206933.4:c.11760_11763del MANE Select NP_996816.3:p.Gly3921ProfsTer11
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