Canonical Allele Identifier: CA2650500780
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215675684-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675689del , CM000663.2:g.215675689del GRCh38
NC_000001.10:g.215849031del , CM000663.1:g.215849031del GRCh37
NC_000001.9:g.213915654del NCBI36
NG_009497.1:g.752712del
NG_009497.2:g.752764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-69del MANE Select ENSP00000305941.3:n.12295-69del
ENST00000674083.1:c.12295-69del ENSP00000501296.1:n.12295-69del
ENST00000307340.7:c.12295-69del ENSP00000305941.3:n.12295-69del
NM_206933.2:c.12295-69del NP_996816.2:n.12295-69del
NM_206933.3:c.12295-69del NP_996816.2:n.12295-69del
NM_206933.4:c.12295-69del MANE Select NP_996816.3:n.12295-69del
Search 100 bp 5'
Search 100 bp 3'