Canonical Allele Identifier: CA171706500
Gene:

Linked Data

dbSNP Id: rs535906207
gnomAD v2: 8-5765097-GGGAGGAAGGCAGGGAGAAAGTGAA-G
gnomAD v3: 8-5907575-GGGAGGAAGGCAGGGAGAAAGTGAA-G
gnomAD v4: 8-5907575-GGGAGGAAGGCAGGGAGAAAGTGAA-G
MyVariant Identifiers: chr8:g.5765098_5765121del (hg19) chr8:g.5907576_5907599del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907585_5907608del , CM000670.2:g.5907585_5907608del GRCh38
NC_000008.10:g.5765107_5765130del , CM000670.1:g.5765107_5765130del GRCh37
NC_000008.9:g.5752515_5752538del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7868_308-7845del
XR_941375.1:n.308-7868_308-7845del
XR_941376.1:n.406-7868_406-7845del
XR_941377.1:n.308-7868_308-7845del
XR_941378.1:n.216-7868_216-7845del
XR_001745765.1:n.308-7868_308-7845del
XR_001745766.1:n.406-7868_406-7845del
XR_001745767.1:n.216-7868_216-7845del
XR_001745768.1:n.308-7868_308-7845del
XR_941374.2:n.308-7868_308-7845del
XR_941375.2:n.308-7868_308-7845del
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