Linked Data
ClinVar Variation Id:
370167
ClinVar RCV Id:
RCV000410755
dbSNP Id:
rs1057516284
MyVariant Identifiers:
chr8:g.100883091_100883094delinsTGT (hg19)
chr8:g.99870863_99870866delinsTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99870863_99870866delinsTGT , CM000670.2:g.99870863_99870866delinsTGT | GRCh38 |
| NC_000008.10:g.100883091_100883094delinsTGT , CM000670.1:g.100883091_100883094delinsTGT | GRCh37 |
| NC_000008.9:g.100952267_100952270delinsTGT | NCBI36 |
| NG_007098.2:g.862598_862601delinsTGT , LRG_351:g.862598_862601delinsTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*640_*643delinsTGT | ENSP00000507923.1:n.*640_*643delinsTGT | |
| ENST00000682358.1:n.11616_11619delinsTGT | ||
| ENST00000683334.1:c.*7228_*7231delinsTGT | ENSP00000507369.1:n.*7228_*7231delinsTGT | |
| ENST00000357162.7:c.11471_11474delinsTGT MANE Select | ENSP00000349685.2:p.Pro3824LeufsTer29 | |
| ENST00000358544.7:c.11546_11549delinsTGT MANE Plus Clinical | ENSP00000351346.2:p.Pro3849LeufsTer29 | |
| ENST00000357162.6:c.11471_11474delinsTGT | ENSP00000349685.2:p.Pro3824LeufsTer29 | |
| ENST00000358544.6:c.11546_11549delinsTGT | ENSP00000351346.2:p.Pro3849LeufsTer29 | |
| ENST00000493587.1:n.488_491delinsTGT | ||
| NM_017890.4:c.11546_11549delinsTGT , LRG_351t1:c.11546_11549delinsTGT | NP_060360.3:p.Pro3849LeufsTer29 | |
| NM_152564.4:c.11471_11474delinsTGT , LRG_351t2:c.11471_11474delinsTGT | NP_689777.3:p.Pro3824LeufsTer29 | |
| XM_005250800.2:c.11546_11549delinsTGT | XP_005250857.1:p.Pro3849LeufsTer29 | |
| XM_005250801.3:c.11546_11549delinsTGT | XP_005250858.1:p.Pro3849LeufsTer29 | |
| XM_011516848.1:c.11543_11546delinsTGT | XP_011515150.1:p.Pro3848LeufsTer29 | |
| XM_011516849.1:c.11468_11471delinsTGT | XP_011515151.1:p.Pro3823LeufsTer29 | |
| XM_011516850.1:c.11168_11171delinsTGT | XP_011515152.1:p.Pro3723LeufsTer29 | |
| XM_011516851.1:c.8432_8435delinsTGT | XP_011515153.1:p.Pro2811LeufsTer29 | |
| XM_011516852.1:c.8432_8435delinsTGT | XP_011515154.1:p.Pro2811LeufsTer29 | |
| XM_011516854.1:c.7325_7328delinsTGT | XP_011515156.1:p.Pro2442LeufsTer29 | |
| XM_005250800.3:c.11546_11549delinsTGT | XP_005250857.1:p.Pro3849LeufsTer29 | |
| XM_005250801.5:c.11546_11549delinsTGT | XP_005250858.1:p.Pro3849LeufsTer29 | |
| XM_011516848.2:c.11543_11546delinsTGT | XP_011515150.1:p.Pro3848LeufsTer29 | |
| XM_011516849.2:c.11468_11471delinsTGT | XP_011515151.1:p.Pro3823LeufsTer29 | |
| XM_011516850.2:c.11168_11171delinsTGT | XP_011515152.1:p.Pro3723LeufsTer29 | |
| XM_011516851.2:c.8432_8435delinsTGT | XP_011515153.1:p.Pro2811LeufsTer29 | |
| XM_011516852.2:c.8432_8435delinsTGT | XP_011515154.1:p.Pro2811LeufsTer29 | |
| XM_011516854.2:c.7325_7328delinsTGT | XP_011515156.1:p.Pro2442LeufsTer29 | |
| XM_017013109.1:c.11351_11354delinsTGT | XP_016868598.1:p.Pro3784LeufsTer29 | |
| XM_017013111.1:c.8432_8435delinsTGT | XP_016868600.1:p.Pro2811LeufsTer29 | |
| XM_017013112.1:c.7103_7106delinsTGT | XP_016868601.1:p.Pro2368LeufsTer29 | |
| XM_024447074.1:c.10331_10334delinsTGT | XP_024302842.1:p.Pro3444LeufsTer29 | |
| NM_017890.5:c.11546_11549delinsTGT MANE Plus Clinical | NP_060360.3:p.Pro3849LeufsTer29 | |
| NM_152564.5:c.11471_11474delinsTGT MANE Select | NP_689777.3:p.Pro3824LeufsTer29 |