Canonical Allele Identifier: CA2650528362
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215816966-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816967del , CM000663.2:g.215816967del GRCh38
NC_000001.10:g.215990309del , CM000663.1:g.215990309del GRCh37
NC_000001.9:g.214056932del NCBI36
NG_009497.1:g.611430del
NG_009497.2:g.611482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+30del MANE Select ENSP00000305941.3:n.9570+30del
ENST00000674083.1:c.9570+30del ENSP00000501296.1:n.9570+30del
ENST00000307340.7:c.9570+30del ENSP00000305941.3:n.9570+30del
NM_206933.2:c.9570+30del NP_996816.2:n.9570+30del
NM_206933.3:c.9570+30del NP_996816.2:n.9570+30del
NM_206933.4:c.9570+30del MANE Select NP_996816.3:n.9570+30del
Search 100 bp 5'
Search 100 bp 3'