Canonical Allele Identifier: CA1012179120
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v3: 1-215675210-GTCC-G
gnomAD v4: 1-215675210-GTCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675211_215675213del , CM000663.2:g.215675211_215675213del GRCh38
NC_000001.10:g.215848553_215848555del , CM000663.1:g.215848553_215848555del GRCh37
NC_000001.9:g.213915176_213915178del NCBI36
NG_009497.1:g.753184_753186del
NG_009497.2:g.753236_753238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12698_12700del MANE Select ENSP00000305941.3:p.Trp4233_Thr4234delinsSer
ENST00000674083.1:c.12698_12700del ENSP00000501296.1:p.Trp4233_Thr4234delinsSer
ENST00000307340.7:c.12698_12700del ENSP00000305941.3:p.Trp4233_Thr4234delinsSer
NM_206933.2:c.12698_12700del NP_996816.2:p.Trp4233_Thr4234delinsSer
NM_206933.3:c.12698_12700del NP_996816.2:p.Trp4233_Thr4234delinsSer
NM_206933.4:c.12698_12700del MANE Select NP_996816.3:p.Trp4233_Thr4234delinsSer
Search 100 bp 5'
Search 100 bp 3'