Linked Data
ClinVar Variation Id:
555181
ClinVar RCV Id:
RCV000670950
dbSNP Id:
rs1554952554
MyVariant Identifiers:
chr8:g.99776923del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776923del , CM000670.2:g.99776923del | GRCh38 |
| NC_000008.10:g.100789151del , CM000670.1:g.100789151del | GRCh37 |
| NC_000008.9:g.100858327del | NCBI36 |
| NG_007098.2:g.768658del , LRG_351:g.768658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7471del | ENSP00000507923.1:p.His2491IlefsTer9 | |
| ENST00000682358.1:n.7541del | ||
| ENST00000683334.1:c.*3153del | ENSP00000507369.1:n.*3153del | |
| ENST00000357162.7:c.7396del MANE Select | ENSP00000349685.2:p.His2466IlefsTer9 | |
| ENST00000358544.7:c.7471del MANE Plus Clinical | ENSP00000351346.2:p.His2491IlefsTer9 | |
| ENST00000357162.6:c.7396del | ENSP00000349685.2:p.His2466IlefsTer9 | |
| ENST00000358544.6:c.7471del | ENSP00000351346.2:p.His2491IlefsTer9 | |
| ENST00000518569.1:n.378-1759del | ||
| NM_017890.4:c.7471del , LRG_351t1:c.7471del | NP_060360.3:p.His2491IlefsTer9 | |
| NM_152564.4:c.7396del , LRG_351t2:c.7396del | NP_689777.3:p.His2466IlefsTer9 | |
| XM_005250800.2:c.7471del | XP_005250857.1:p.His2491IlefsTer9 | |
| XM_005250801.3:c.7471del | XP_005250858.1:p.His2491IlefsTer9 | |
| XM_011516848.1:c.7468del | XP_011515150.1:p.His2490IlefsTer9 | |
| XM_011516849.1:c.7393del | XP_011515151.1:p.His2465IlefsTer9 | |
| XM_011516850.1:c.7093del | XP_011515152.1:p.His2365IlefsTer9 | |
| XM_011516851.1:c.4357del | XP_011515153.1:p.His1453IlefsTer9 | |
| XM_011516852.1:c.4357del | XP_011515154.1:p.His1453IlefsTer9 | |
| XM_011516853.1:c.7471del | XP_011515155.1:p.His2491IlefsTer9 | |
| XM_011516854.1:c.3250del | XP_011515156.1:p.His1084IlefsTer9 | |
| XR_928446.1:n.1830+5556del | ||
| XM_005250800.3:c.7471del | XP_005250857.1:p.His2491IlefsTer9 | |
| XM_005250801.5:c.7471del | XP_005250858.1:p.His2491IlefsTer9 | |
| XM_011516848.2:c.7468del | XP_011515150.1:p.His2490IlefsTer9 | |
| XM_011516849.2:c.7393del | XP_011515151.1:p.His2465IlefsTer9 | |
| XM_011516850.2:c.7093del | XP_011515152.1:p.His2365IlefsTer9 | |
| XM_011516851.2:c.4357del | XP_011515153.1:p.His1453IlefsTer9 | |
| XM_011516852.2:c.4357del | XP_011515154.1:p.His1453IlefsTer9 | |
| XM_011516853.2:c.7471del | XP_011515155.1:p.His2491IlefsTer9 | |
| XM_011516854.2:c.3250del | XP_011515156.1:p.His1084IlefsTer9 | |
| XM_017013109.1:c.7276del | XP_016868598.1:p.His2426IlefsTer9 | |
| XM_017013111.1:c.4357del | XP_016868600.1:p.His1453IlefsTer9 | |
| XM_017013112.1:c.3028del | XP_016868601.1:p.His1010IlefsTer9 | |
| XM_024447074.1:c.6256del | XP_024302842.1:p.His2086IlefsTer9 | |
| NM_017890.5:c.7471del MANE Plus Clinical | NP_060360.3:p.His2491IlefsTer9 | |
| NM_152564.5:c.7396del MANE Select | NP_689777.3:p.His2466IlefsTer9 |