Linked Data
ClinVar Variation Id:
370424
dbSNP Id:
rs1057516476
gnomAD v4:
18-23904582-TG-T
PubMed:
PMID:12943669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23904584del , CM000680.2:g.23904584del | GRCh38 |
| NC_000018.9:g.21484548del , CM000680.1:g.21484548del | GRCh37 |
| NC_000018.8:g.19738546del | NCBI36 |
| NG_007853.2:g.219987del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.1678del MANE Plus Clinical | ENSP00000269217.5:p.Val560CysfsTer? | |
| ENST00000313654.14:c.6505del MANE Select | ENSP00000324532.8:p.Val2169CysfsTer? | |
| ENST00000649721.1:c.3397del | ENSP00000497885.1:p.Val1133CysfsTer? | |
| ENST00000269217.10:c.1678del | ENSP00000269217.5:p.Val560CysfsTer? | |
| ENST00000313654.13:c.6505del | ENSP00000324532.8:p.Val2169CysfsTer? | |
| ENST00000399516.7:c.6337del | ENSP00000382432.2:p.Val2113CysfsTer? | |
| ENST00000586751.5:c.1283del | ||
| ENST00000587184.5:c.1510del | ENSP00000466557.1:p.Val504CysfsTer? | |
| ENST00000588770.5:n.1083del | ||
| NM_000227.4:c.1678del | NP_000218.3:p.Val560CysfsTer? | |
| NM_001127717.2:c.6337del | NP_001121189.2:p.Val2113CysfsTer? | |
| NM_001127718.2:c.1510del | NP_001121190.2:p.Val504CysfsTer? | |
| NM_198129.2:c.6505del | NP_937762.2:p.Val2169CysfsTer? | |
| XM_011525978.1:c.6532del | XP_011524280.1:p.Val2178CysfsTer? | |
| XM_011525979.1:c.6523del | XP_011524281.1:p.Val2175CysfsTer? | |
| XM_011525980.1:c.6514del | XP_011524282.1:p.Val2172CysfsTer? | |
| XM_011525981.1:c.6400del | XP_011524283.1:p.Val2134CysfsTer? | |
| XM_011525982.1:c.6532del | XP_011524284.1:p.Val2178CysfsTer? | |
| XM_011525978.2:c.6532del | XP_011524280.1:p.Val2178CysfsTer? | |
| XM_011525979.2:c.6523del | XP_011524281.1:p.Val2175CysfsTer? | |
| XM_011525980.2:c.6514del | XP_011524282.1:p.Val2172CysfsTer? | |
| XM_011525981.2:c.6400del | XP_011524283.1:p.Val2134CysfsTer? | |
| XM_011525982.2:c.6532del | XP_011524284.1:p.Val2178CysfsTer? | |
| XM_017025743.1:c.4384del | XP_016881232.1:p.Val1462CysfsTer? | |
| XM_017025744.1:c.2074del | XP_016881233.1:p.Val692CysfsTer? | |
| XR_001753199.1:n.6773del | ||
| NM_000227.5:c.1678del | NP_000218.3:p.Val560CysfsTer? | |
| NM_001127717.3:c.6337del | NP_001121189.2:p.Val2113CysfsTer? | |
| NM_001127718.3:c.1510del | NP_001121190.2:p.Val504CysfsTer? | |
| NM_198129.3:c.6505del | NP_937762.2:p.Val2169CysfsTer? | |
| NM_000227.6:c.1678del MANE Plus Clinical | NP_000218.3:p.Val560CysfsTer? | |
| NM_001127717.4:c.6337del | NP_001121189.2:p.Val2113CysfsTer? | |
| NM_001127718.4:c.1510del | NP_001121190.2:p.Val504CysfsTer? | |
| NM_198129.4:c.6505del MANE Select | NP_937762.2:p.Val2169CysfsTer? |