Canonical Allele Identifier: CA731342525
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs397973241
gnomAD v3: 1-215728606-C-CACACACAT
gnomAD v4: 1-215728606-C-CACACACAT
MyVariant Identifiers: chr1:g.215901948_215901949insACACACAT (hg19) chr1:g.215728606_215728607insACACACAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728606_215728607insACACACAT , CM000663.2:g.215728606_215728607insACACACAT GRCh38
NC_000001.10:g.215901948_215901949insACACACAT , CM000663.1:g.215901948_215901949insACACACAT GRCh37
NC_000001.9:g.213968571_213968572insACACACAT NCBI36
NG_009497.1:g.699790_699791insATGTGTGT
NG_009497.2:g.699842_699843insATGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-223_11712-222insATGTGTGT MANE Select ENSP00000305941.3:n.11712-223_11712-222insATGTGTGT
ENST00000674083.1:c.11712-223_11712-222insATGTGTGT ENSP00000501296.1:n.11712-223_11712-222insATGTGTGT
ENST00000307340.7:c.11712-223_11712-222insATGTGTGT ENSP00000305941.3:n.11712-223_11712-222insATGTGTGT
NM_206933.2:c.11712-223_11712-222insATGTGTGT NP_996816.2:n.11712-223_11712-222insATGTGTGT
NM_206933.3:c.11712-223_11712-222insATGTGTGT NP_996816.2:n.11712-223_11712-222insATGTGTGT
NM_206933.4:c.11712-223_11712-222insATGTGTGT MANE Select NP_996816.3:n.11712-223_11712-222insATGTGTGT
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