Canonical Allele Identifier: CA853715749
Gene:

Linked Data

dbSNP Id: rs1249266397
gnomAD v3: 8-5907532-AGAAGAG-A
gnomAD v4: 8-5907532-AGAAGAG-A
MyVariant Identifiers: chr8:g.5765055_5765060del (hg19) chr8:g.5907533_5907538del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907541_5907546del , CM000670.2:g.5907541_5907546del GRCh38
NC_000008.10:g.5765063_5765068del , CM000670.1:g.5765063_5765068del GRCh37
NC_000008.9:g.5752471_5752476del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7807_308-7802del
XR_941375.1:n.308-7807_308-7802del
XR_941376.1:n.406-7807_406-7802del
XR_941377.1:n.308-7807_308-7802del
XR_941378.1:n.216-7807_216-7802del
XR_001745765.1:n.308-7807_308-7802del
XR_001745766.1:n.406-7807_406-7802del
XR_001745767.1:n.216-7807_216-7802del
XR_001745768.1:n.308-7807_308-7802del
XR_941374.2:n.308-7807_308-7802del
XR_941375.2:n.308-7807_308-7802del
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