Linked Data
ClinVar Variation Id:
452644
ClinVar RCV Id:
RCV000519860
dbSNP Id:
rs762933005
ExAC:
17:56352986 TG / T
gnomAD v2:
17-56352986-TG-T
gnomAD v3:
17-58275625-TG-T
gnomAD v4:
17-58275625-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58275627del , CM000679.2:g.58275627del | GRCh38 |
| NC_000017.10:g.56352988del , CM000679.1:g.56352988del | GRCh37 |
| NC_000017.9:g.53707987del | NCBI36 |
| NG_009629.1:g.10310del , LRG_84:g.10310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.614del | ||
| ENST00000699291.1:c.491-1957del | ENSP00000514272.1:n.491-1957del | |
| ENST00000225275.4:c.1281del MANE Select | ENSP00000225275.3:p.Thr428GlnfsTer6 | |
| ENST00000225275.3:c.1281del | ENSP00000225275.3:p.Thr428GlnfsTer6 | |
| ENST00000578493.1:n.428del | ||
| NM_000250.1:c.1281del , LRG_84t1:c.1281del | NP_000241.1:p.Thr428GlnfsTer6 | |
| XM_011524821.1:c.1467del | XP_011523123.1:p.Thr490GlnfsTer6 | |
| XM_011524822.1:c.996del | XP_011523124.1:p.Thr333GlnfsTer6 | |
| XM_011524823.1:c.1391-1957del | XP_011523125.1:n.1391-1957del | |
| NM_000250.2:c.1281del MANE Select | NP_000241.1:p.Thr428GlnfsTer6 |