Linked Data
ClinVar Variation Id:
1000970
ClinVar RCV Id:
RCV001297183
dbSNP Id:
rs765468464
gnomAD v3:
21-33403590-TCGCCGC-T
gnomAD v4:
21-33403590-TCGCCGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33403600_33403605del , CM000683.2:g.33403600_33403605del | GRCh38 |
| NC_000021.8:g.34775906_34775911del , CM000683.1:g.34775906_34775911del | GRCh37 |
| NC_000021.7:g.33697776_33697781del | NCBI36 |
| NG_007570.2:g.23608_23613del , LRG_67:g.23608_23613del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290219.11:c.57_62del MANE Select | ENSP00000290219.5:p.Ala20_Ala21del | |
| ENST00000290219.10:c.57_62del | ENSP00000290219.5:p.Ala20_Ala21del | |
| ENST00000381995.5:c.57_62del | ENSP00000371425.1:p.Ala20_Ala21del | |
| ENST00000405436.5:c.-233_-228del | ENSP00000385044.1:n.-233_-228del | |
| ENST00000439213.5:c.57_62del | ENSP00000407541.1:p.Ala20_Ala21del | |
| ENST00000545369.2:c.57_62del | ENSP00000442735.2:p.Ala20_Ala21del | |
| NM_005534.3:c.57_62del , LRG_67t1:c.57_62del | NP_005525.2:p.Ala20_Ala21del | |
| XM_005260969.2:c.57_62del | XP_005261026.1:p.Ala20_Ala21del | |
| NM_001329128.1:c.57_62del | NP_001316057.1:p.Ala20_Ala21del | |
| NM_001329128.2:c.57_62del | NP_001316057.1:p.Ala20_Ala21del | |
| NM_005534.4:c.57_62del MANE Select | NP_005525.2:p.Ala20_Ala21del |