Linked Data
ClinVar Variation Id:
420100
dbSNP Id:
rs759242559
ExAC:
1:229568091 TC / T
gnomAD v2:
1-229568091-TC-T
gnomAD v4:
1-229432344-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432346del , CM000663.2:g.229432346del | GRCh38 |
| NC_000001.10:g.229568093del , CM000663.1:g.229568093del | GRCh37 |
| NC_000001.9:g.227634716del | NCBI36 |
| NG_006672.1:g.6752del , LRG_429:g.6752del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.541del | ENSP00000355644.4:p.Asp181ThrfsTer11 | |
| ENST00000684723.1:c.406del | ENSP00000508084.1:p.Asp136ThrfsTer11 | |
| ENST00000366683.3:c.479+62del | ENSP00000355644.3:n.479+62del | |
| ENST00000366684.7:c.541del MANE Select | ENSP00000355645.3:p.Asp181ThrfsTer11 | |
| NM_001100.3:c.541del , LRG_429t1:c.541del | NP_001091.1:p.Asp181ThrfsTer11 | |
| NM_001100.4:c.541del MANE Select | NP_001091.1:p.Asp181ThrfsTer11 |