Canonical Allele Identifier: CA579870310
Gene:

Linked Data

dbSNP Id: rs1563126672
gnomAD v2: 8-5765368-TTAAC-T
gnomAD v3: 8-5907846-TTAAC-T
gnomAD v4: 8-5907846-TTAAC-T
MyVariant Identifiers: chr8:g.5765369_5765372del (hg19) chr8:g.5907847_5907850del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907849_5907852del , CM000670.2:g.5907849_5907852del GRCh38
NC_000008.10:g.5765371_5765374del , CM000670.1:g.5765371_5765374del GRCh37
NC_000008.9:g.5752779_5752782del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-8119_308-8116del
XR_941375.1:n.308-8119_308-8116del
XR_941376.1:n.406-8119_406-8116del
XR_941377.1:n.308-8119_308-8116del
XR_941378.1:n.216-8119_216-8116del
XR_001745765.1:n.308-8119_308-8116del
XR_001745766.1:n.406-8119_406-8116del
XR_001745767.1:n.216-8119_216-8116del
XR_001745768.1:n.308-8119_308-8116del
XR_941374.2:n.308-8119_308-8116del
XR_941375.2:n.308-8119_308-8116del
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