Canonical Allele Identifier: CA731342524
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1237189285
gnomAD v3: 1-215728598-C-CACACACACACACAA
gnomAD v4: 1-215728598-C-CACACACACACACAA
MyVariant Identifiers: chr1:g.215901940_215901941insACACACACACACAA (hg19) chr1:g.215728598_215728599insACACACACACACAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728606_215728607insACACAAACACACAC , CM000663.2:g.215728606_215728607insACACAAACACACAC GRCh38
NC_000001.10:g.215901948_215901949insACACAAACACACAC , CM000663.1:g.215901948_215901949insACACAAACACACAC GRCh37
NC_000001.9:g.213968571_213968572insACACAAACACACAC NCBI36
NG_009497.1:g.699798_699799insTTGTGTGTGTGTGT
NG_009497.2:g.699850_699851insTTGTGTGTGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-215_11712-214insTTGTGTGTGTGTGT MANE Select ENSP00000305941.3:n.11712-215_11712-214insTTGTGTGTGTGTGT
ENST00000674083.1:c.11712-215_11712-214insTTGTGTGTGTGTGT ENSP00000501296.1:n.11712-215_11712-214insTTGTGTGTGTGTGT
ENST00000307340.7:c.11712-215_11712-214insTTGTGTGTGTGTGT ENSP00000305941.3:n.11712-215_11712-214insTTGTGTGTGTGTGT
NM_206933.2:c.11712-215_11712-214insTTGTGTGTGTGTGT NP_996816.2:n.11712-215_11712-214insTTGTGTGTGTGTGT
NM_206933.3:c.11712-215_11712-214insTTGTGTGTGTGTGT NP_996816.2:n.11712-215_11712-214insTTGTGTGTGTGTGT
NM_206933.4:c.11712-215_11712-214insTTGTGTGTGTGTGT MANE Select NP_996816.3:n.11712-215_11712-214insTTGTGTGTGTGTGT
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