Canonical Allele Identifier: CA1012188857
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1661568481
gnomAD v3: 1-215779788-CT-C
gnomAD v4: 1-215779788-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779789del , CM000663.2:g.215779789del GRCh38
NC_000001.10:g.215953131del , CM000663.1:g.215953131del GRCh37
NC_000001.9:g.214019754del NCBI36
NG_009497.1:g.648608del
NG_009497.2:g.648660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+54del MANE Select ENSP00000305941.3:n.10939+54del
ENST00000674083.1:c.10939+54del ENSP00000501296.1:n.10939+54del
ENST00000307340.7:c.10939+54del ENSP00000305941.3:n.10939+54del
NM_206933.2:c.10939+54del NP_996816.2:n.10939+54del
NM_206933.3:c.10939+54del NP_996816.2:n.10939+54del
NM_206933.4:c.10939+54del MANE Select NP_996816.3:n.10939+54del
Search 100 bp 5'
Search 100 bp 3'