Canonical Allele Identifier: CA2650528715
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215845731-TATA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215845734_215845736del , CM000663.2:g.215845734_215845736del GRCh38
NC_000001.10:g.216019076_216019078del , CM000663.1:g.216019076_216019078del GRCh37
NC_000001.9:g.214085699_214085701del NCBI36
NG_009497.1:g.582663_582665del
NG_009497.2:g.582715_582717del

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9055+90_9055+92del MANE Select ENSP00000305941.3:n.9055+90_9055+92del
ENST00000674083.1:c.9055+90_9055+92del ENSP00000501296.1:n.9055+90_9055+92del
ENST00000307340.7:c.9055+90_9055+92del ENSP00000305941.3:n.9055+90_9055+92del
NM_206933.2:c.9055+90_9055+92del NP_996816.2:n.9055+90_9055+92del
NM_206933.3:c.9055+90_9055+92del NP_996816.2:n.9055+90_9055+92del
NM_206933.4:c.9055+90_9055+92del MANE Select NP_996816.3:n.9055+90_9055+92del
Search 100 bp 5'
Search 100 bp 3'