Linked Data
ClinVar Variation Id:
982296
dbSNP Id:
rs1181354869
gnomAD v2:
17-78078930-CGGTG-C
gnomAD v3:
17-80105131-CGGTG-C
gnomAD v4:
17-80105131-CGGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105134_80105137del , CM000679.2:g.80105134_80105137del | GRCh38 |
| NC_000017.10:g.78078933_78078936del , CM000679.1:g.78078933_78078936del | GRCh37 |
| NC_000017.9:g.75693528_75693531del | NCBI36 |
| NG_009822.1:g.8579_8582del , LRG_673:g.8579_8582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.546+2_546+5del | ||
| ENST00000572080.2:c.546+2_546+5del | ||
| ENST00000577106.6:c.546+2_546+5del | ||
| ENST00000302262.8:c.546+2_546+5del | ||
| ENST00000302262.7:c.546+2_546+5del | ||
| ENST00000390015.7:c.546+2_546+5del | ||
| ENST00000570803.5:c.546+2_546+5del | ||
| ENST00000577106.5:c.546+2_546+5del | ||
| NM_000152.3:c.546+2_546+5del , LRG_673t1:c.546+2_546+5del | ||
| NM_001079803.1:c.546+2_546+5del | ||
| NM_001079804.1:c.546+2_546+5del | ||
| XM_005257193.1:c.546+2_546+5del | ||
| XM_005257194.3:c.546+2_546+5del | ||
| NM_000152.4:c.546+2_546+5del | ||
| NM_001079803.2:c.546+2_546+5del | ||
| NM_001079804.2:c.546+2_546+5del | ||
| XM_005257193.2:c.546+2_546+5del | ||
| XM_005257194.4:c.546+2_546+5del | ||
| NM_000152.5:c.546+2_546+5del | ||
| NM_001079803.3:c.546+2_546+5del | ||
| NM_001079804.3:c.546+2_546+5del |