Canonical Allele Identifier: CA1012179129
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1657978132
gnomAD v3: 1-215675220-G-GCCGTATCATTAAAAAA
gnomAD v4: 1-215675220-G-GCCGTATCATTAAAAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675221_215675222insCGTATCATTAAAAAAC , CM000663.2:g.215675221_215675222insCGTATCATTAAAAAAC GRCh38
NC_000001.10:g.215848563_215848564insCGTATCATTAAAAAAC , CM000663.1:g.215848563_215848564insCGTATCATTAAAAAAC GRCh37
NC_000001.9:g.213915186_213915187insCGTATCATTAAAAAAC NCBI36
NG_009497.1:g.753176_753177insTTTTTTAATGATACGG
NG_009497.2:g.753228_753229insTTTTTTAATGATACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12690_12691insTTTTTTAATGATACGG MANE Select ENSP00000305941.3:p.Gln4231PhefsTer12
ENST00000674083.1:c.12690_12691insTTTTTTAATGATACGG ENSP00000501296.1:p.Gln4231PhefsTer12
ENST00000307340.7:c.12690_12691insTTTTTTAATGATACGG ENSP00000305941.3:p.Gln4231PhefsTer12
NM_206933.2:c.12690_12691insTTTTTTAATGATACGG NP_996816.2:p.Gln4231PhefsTer12
NM_206933.3:c.12690_12691insTTTTTTAATGATACGG NP_996816.2:p.Gln4231PhefsTer12
NM_206933.4:c.12690_12691insTTTTTTAATGATACGG MANE Select NP_996816.3:p.Gln4231PhefsTer12
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