Linked Data
ClinVar Variation Id:
1533278
ClinVar RCV Id:
RCV002102305
dbSNP Id:
rs1456310412
gnomAD v3:
21-44289809-ACCTGACCTTC-A
gnomAD v4:
21-44289809-ACCTGACCTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289814_44289823del , CM000683.2:g.44289814_44289823del | GRCh38 |
| NC_000021.8:g.45709697_45709706del , CM000683.1:g.45709697_45709706del | GRCh37 |
| NC_000021.7:g.44534125_44534134del | NCBI36 |
| NG_009556.1:g.8935_8944del , LRG_18:g.8935_8944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.798+12_798+21del MANE Select | ENSP00000291582.5:n.798+12_798+21del | |
| ENST00000291582.5:c.798+12_798+21del | ENSP00000291582.5:n.798+12_798+21del | |
| ENST00000527919.5:n.1531+12_1531+21del | ||
| ENST00000530812.5:n.2548+12_2548+21del | ||
| NM_000383.3:c.798+12_798+21del | NP_000374.1:n.798+12_798+21del | |
| XM_011529551.1:c.798+12_798+21del | XP_011527853.1:n.798+12_798+21del | |
| NM_000383.4:c.798+12_798+21del MANE Select | NP_000374.1:n.798+12_798+21del |