Linked Data
ClinVar Variation Id:
1435338
dbSNP Id:
rs1659200106
gnomAD v3:
1-94001955-ACAGT-A
gnomAD v4:
1-94001955-ACAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001959_94001962del , CM000663.2:g.94001959_94001962del | GRCh38 |
| NC_000001.10:g.94467515_94467518del , CM000663.1:g.94467515_94467518del | GRCh37 |
| NC_000001.9:g.94240103_94240106del | NCBI36 |
| NG_009073.1:g.124191_124194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6181_6184del MANE Select | ENSP00000359245.3:p.Thr2061SerfsTer? | |
| ENST00000370225.3:c.6181_6184del | ENSP00000359245.3:p.Thr2061SerfsTer? | |
| ENST00000465352.1:n.597_600del | ||
| ENST00000536513.5:c.2557_2560del | ENSP00000439707.2:p.Thr853SerfsTer? | |
| NM_000350.2:c.6181_6184del | NP_000341.2:p.Thr2061SerfsTer? | |
| NM_000350.3:c.6181_6184del MANE Select | NP_000341.2:p.Thr2061SerfsTer? |