Linked Data
ClinVar Variation Id:
374486
dbSNP Id:
rs752135284
ExAC:
17:62022041 TCTG / T
gnomAD v2:
17-62022041-TCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944685_63944687del , CM000679.2:g.63944685_63944687del | GRCh38 |
| NC_000017.10:g.62022045_62022047del , CM000679.1:g.62022045_62022047del | GRCh37 |
| NC_000017.9:g.59375777_59375779del | NCBI36 |
| NG_011699.1:g.33235_33237del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.3901_3903del MANE Select | ENSP00000396320.1:p.Gln1301del | |
| ENST00000578147.5:c.3901_3903del | ENSP00000463963.1:p.Gln1301del | |
| NM_000334.4:c.3901_3903del MANE Select | NP_000325.4:p.Gln1301del | |
| XM_005257566.3:c.3901_3903del | XP_005257623.1:p.Gln1301del |