Canonical Allele Identifier: CA731342505
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1553256608
MyVariant Identifiers: chr1:g.215901924_215901925insACACACTC (hg19) chr1:g.215728582_215728583insACACACTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728588_215728589insTCACACAC , CM000663.2:g.215728588_215728589insTCACACAC GRCh38
NC_000001.10:g.215901930_215901931insTCACACAC , CM000663.1:g.215901930_215901931insTCACACAC GRCh37
NC_000001.9:g.213968553_213968554insTCACACAC NCBI36
NG_009497.1:g.699814_699815insGAGTGTGT
NG_009497.2:g.699866_699867insGAGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-199_11712-198insGAGTGTGT MANE Select ENSP00000305941.3:n.11712-199_11712-198insGAGTGTGT
ENST00000674083.1:c.11712-199_11712-198insGAGTGTGT ENSP00000501296.1:n.11712-199_11712-198insGAGTGTGT
ENST00000307340.7:c.11712-199_11712-198insGAGTGTGT ENSP00000305941.3:n.11712-199_11712-198insGAGTGTGT
NM_206933.2:c.11712-199_11712-198insGAGTGTGT NP_996816.2:n.11712-199_11712-198insGAGTGTGT
NM_206933.3:c.11712-199_11712-198insGAGTGTGT NP_996816.2:n.11712-199_11712-198insGAGTGTGT
NM_206933.4:c.11712-199_11712-198insGAGTGTGT MANE Select NP_996816.3:n.11712-199_11712-198insGAGTGTGT
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