Linked Data
ClinVar Variation Id:
447407
dbSNP Id:
rs1246464603
gnomAD v3:
7-44150062-GC-G
gnomAD v4:
7-44150062-GC-G
PubMed:
PMID:11942313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44150065del , CM000669.2:g.44150065del | GRCh38 |
| NC_000007.13:g.44189664del , CM000669.1:g.44189664del | GRCh37 |
| NC_000007.12:g.44156189del | NCBI36 |
| NG_008847.1:g.44361del | |
| NG_008847.2:g.53108del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*483del | ||
| ENST00000616242.5:c.485del | ||
| ENST00000682635.1:n.971del | ||
| ENST00000345378.7:c.488del | ||
| ENST00000403799.8:c.485del | ||
| ENST00000671824.1:c.485del | ||
| ENST00000673284.1:c.485del | ||
| ENST00000345378.6:c.488del | ||
| ENST00000395796.7:c.482del | ||
| ENST00000403799.7:c.485del | ||
| ENST00000437084.1:c.434del | ||
| ENST00000616242.4:c.482del | ||
| NM_000162.3:c.485del | ||
| NM_033507.1:c.488del | ||
| NM_033508.1:c.482del | ||
| NM_000162.4:c.485del | ||
| NM_001354800.1:c.485del | ||
| NM_033507.2:c.488del | ||
| NM_033508.2:c.482del | ||
| NM_000162.5:c.485del | ||
| NM_033507.3:c.488del | ||
| NM_033508.3:c.482del |