Canonical Allele Identifier: CA2650528345
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215816914-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816915del , CM000663.2:g.215816915del GRCh38
NC_000001.10:g.215990257del , CM000663.1:g.215990257del GRCh37
NC_000001.9:g.214056880del NCBI36
NG_009497.1:g.611482del
NG_009497.2:g.611534del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9570+82del MANE Select ENSP00000305941.3:n.9570+82del
ENST00000674083.1:c.9570+82del ENSP00000501296.1:n.9570+82del
ENST00000307340.7:c.9570+82del ENSP00000305941.3:n.9570+82del
NM_206933.2:c.9570+82del NP_996816.2:n.9570+82del
NM_206933.3:c.9570+82del NP_996816.2:n.9570+82del
NM_206933.4:c.9570+82del MANE Select NP_996816.3:n.9570+82del
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