Canonical Allele Identifier: CA579870172
Gene:

Linked Data

dbSNP Id: rs1237089359
gnomAD v2: 8-5765065-AGGAGGAAGGGATGGAG-A
gnomAD v3: 8-5907543-AGGAGGAAGGGATGGAG-A
gnomAD v4: 8-5907543-AGGAGGAAGGGATGGAG-A
MyVariant Identifiers: chr8:g.5765066_5765081del (hg19) chr8:g.5907544_5907559del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907551_5907566del , CM000670.2:g.5907551_5907566del GRCh38
NC_000008.10:g.5765073_5765088del , CM000670.1:g.5765073_5765088del GRCh37
NC_000008.9:g.5752481_5752496del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7828_308-7813del
XR_941375.1:n.308-7828_308-7813del
XR_941376.1:n.406-7828_406-7813del
XR_941377.1:n.308-7828_308-7813del
XR_941378.1:n.216-7828_216-7813del
XR_001745765.1:n.308-7828_308-7813del
XR_001745766.1:n.406-7828_406-7813del
XR_001745767.1:n.216-7828_216-7813del
XR_001745768.1:n.308-7828_308-7813del
XR_941374.2:n.308-7828_308-7813del
XR_941375.2:n.308-7828_308-7813del
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