Canonical Allele Identifier: CA731342486
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1553256607
gnomAD v3: 1-215728582-G-GACACATAC
gnomAD v4: 1-215728582-G-GACACATAC
MyVariant Identifiers: chr1:g.215901924_215901925insACACATAC (hg19) chr1:g.215728582_215728583insACACATAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728587_215728588insTACACACA , CM000663.2:g.215728587_215728588insTACACACA GRCh38
NC_000001.10:g.215901929_215901930insTACACACA , CM000663.1:g.215901929_215901930insTACACACA GRCh37
NC_000001.9:g.213968552_213968553insTACACACA NCBI36
NG_009497.1:g.699814_699815insGTATGTGT
NG_009497.2:g.699866_699867insGTATGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-199_11712-198insGTATGTGT MANE Select ENSP00000305941.3:n.11712-199_11712-198insGTATGTGT
ENST00000674083.1:c.11712-199_11712-198insGTATGTGT ENSP00000501296.1:n.11712-199_11712-198insGTATGTGT
ENST00000307340.7:c.11712-199_11712-198insGTATGTGT ENSP00000305941.3:n.11712-199_11712-198insGTATGTGT
NM_206933.2:c.11712-199_11712-198insGTATGTGT NP_996816.2:n.11712-199_11712-198insGTATGTGT
NM_206933.3:c.11712-199_11712-198insGTATGTGT NP_996816.2:n.11712-199_11712-198insGTATGTGT
NM_206933.4:c.11712-199_11712-198insGTATGTGT MANE Select NP_996816.3:n.11712-199_11712-198insGTATGTGT
Search 100 bp 5'
Search 100 bp 3'