Linked Data
ClinVar Variation Id:
1334027
ClinVar RCV Id:
RCV001809242
dbSNP Id:
rs1858619779
gnomAD v4:
11-22624990-TAGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624993_22624996del , CM000673.2:g.22624993_22624996del | GRCh38 |
| NC_000011.9:g.22646539_22646542del , CM000673.1:g.22646539_22646542del | GRCh37 |
| NC_000011.8:g.22603115_22603118del | NCBI36 |
| NG_007425.1:g.5848_5851del , LRG_527:g.5848_5851del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.817_820del MANE Select | ENSP00000330875.3:p.Val273IlefsTer5 | |
| ENST00000327470.4:c.817_820del | ENSP00000330875.3:p.Val273IlefsTer5 | |
| NM_022725.3:c.817_820del , LRG_527t1:c.817_820del | NP_073562.1:p.Val273IlefsTer5 | |
| NM_022725.4:c.817_820del MANE Select | NP_073562.1:p.Val273IlefsTer5 |