Linked Data
ClinVar Variation Id:
1594273
ClinVar RCV Id:
RCV002115303
dbSNP Id:
rs1220139184
gnomAD v3:
19-853411-CGGGCG-C
gnomAD v4:
19-853411-CGGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853420_853424del , CM000681.2:g.853420_853424del | GRCh38 |
| NC_000019.9:g.853420_853424del , CM000681.1:g.853420_853424del | GRCh37 |
| NC_000019.8:g.804420_804424del | NCBI36 |
| NG_009627.1:g.6130_6134del , LRG_57:g.6130_6134del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.366+17_366+21del MANE Select | ENSP00000263621.1:n.366+17_366+21del | |
| ENST00000263621.1:c.366+17_366+21del | ENSP00000263621.1:n.366+17_366+21del | |
| ENST00000590230.5:c.366+17_366+21del | ENSP00000466090.1:n.366+17_366+21del | |
| NM_001972.2:c.366+17_366+21del , LRG_57t1:c.366+17_366+21del | NP_001963.1:n.366+17_366+21del | |
| XM_011527775.1:c.366+17_366+21del | XP_011526077.1:n.366+17_366+21del | |
| XM_011527776.1:c.366+17_366+21del | XP_011526078.1:n.366+17_366+21del | |
| NM_001972.3:c.366+17_366+21del | NP_001963.1:n.366+17_366+21del | |
| NM_001972.4:c.366+17_366+21del MANE Select | NP_001963.1:n.366+17_366+21del |