Linked Data
dbSNP Id:
rs1842160836
gnomAD v3:
10-84203137-CCCCTCAG-C
gnomAD v4:
10-84203137-CCCCTCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84203140_84203146del , CM000672.2:g.84203140_84203146del | GRCh38 |
| NC_000010.10:g.85962896_85962902del , CM000672.1:g.85962896_85962902del | GRCh37 |
| NC_000010.9:g.85952876_85952882del | NCBI36 |
| NG_028034.1:g.13485_13491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623527.4:c.783+17_783+23del MANE Select | ENSP00000485478.1:n.783+17_783+23del | |
| ENST00000332904.7:c.783+17_783+23del | ENSP00000331063.3:n.783+17_783+23del | |
| ENST00000372117.6:c.163+17_163+23del | ||
| ENST00000623527.3:c.783+17_783+23del | ENSP00000485478.1:n.783+17_783+23del | |
| NM_001171971.2:c.783+17_783+23del | NP_001165442.1:n.783+17_783+23del | |
| NM_033100.3:c.783+17_783+23del | NP_149091.1:n.783+17_783+23del | |
| XM_011540337.1:c.957+17_957+23del | XP_011538639.1:n.957+17_957+23del | |
| XM_011540338.1:c.957+17_957+23del | XP_011538640.1:n.957+17_957+23del | |
| XM_011540339.1:c.404+17_404+23del | XP_011538641.1:n.404+17_404+23del | |
| XM_011540340.1:c.957+17_957+23del | XP_011538642.1:n.957+17_957+23del | |
| XM_011540340.3:c.957+17_957+23del | XP_011538642.1:n.957+17_957+23del | |
| NM_033100.4:c.783+17_783+23del MANE Select | NP_149091.1:n.783+17_783+23del | |
| NM_001171971.3:c.783+17_783+23del | NP_001165442.1:n.783+17_783+23del |