Canonical Allele Identifier:
CA1110104975
Gene:
Linked Data
dbSNP Id:
rs1798583192
gnomAD v3:
8-5907579-GGAAGGCAGGGAGAAAGTGAA-G
gnomAD v4:
8-5907579-GGAAGGCAGGGAGAAAGTGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.5907581_5907600del , CM000670.2:g.5907581_5907600del | GRCh38 |
| NC_000008.10:g.5765103_5765122del , CM000670.1:g.5765103_5765122del | GRCh37 |
| NC_000008.9:g.5752511_5752530del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941374.1:n.308-7868_308-7849del | ||
| XR_941375.1:n.308-7868_308-7849del | ||
| XR_941376.1:n.406-7868_406-7849del | ||
| XR_941377.1:n.308-7868_308-7849del | ||
| XR_941378.1:n.216-7868_216-7849del | ||
| XR_001745765.1:n.308-7868_308-7849del | ||
| XR_001745766.1:n.406-7868_406-7849del | ||
| XR_001745767.1:n.216-7868_216-7849del | ||
| XR_001745768.1:n.308-7868_308-7849del | ||
| XR_941374.2:n.308-7868_308-7849del | ||
| XR_941375.2:n.308-7868_308-7849del |