Linked Data
dbSNP Id:
rs779105509
ExAC:
17:41063386 TGTC / T
gnomAD v2:
17-41063386-TGTC-T
gnomAD v3:
17-42911369-TGTC-T
gnomAD v4:
17-42911369-TGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911370_42911372del , CM000679.2:g.42911370_42911372del | GRCh38 |
| NC_000017.10:g.41063387_41063389del , CM000679.1:g.41063387_41063389del | GRCh37 |
| NC_000017.9:g.38316913_38316915del | NCBI36 |
| NG_011808.1:g.15573_15575del , LRG_147:g.15573_15575del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1018_1020del MANE Select | ENSP00000253801.1:p.Val340del | |
| ENST00000253801.6:c.1018_1020del | ENSP00000253801.1:p.Val340del | |
| ENST00000585489.1:c.*410_*412del | ENSP00000466202.1:n.*410_*412del | |
| NM_000151.3:c.1018_1020del | NP_000142.2:p.Val340del | |
| NM_001270397.1:c.*410_*412del | NP_001257326.1:n.*410_*412del | |
| NM_000151.4:c.1018_1020del MANE Select | NP_000142.2:p.Val340del | |
| NM_001270397.2:c.*410_*412del | NP_001257326.1:n.*410_*412del |