Linked Data
ClinVar Variation Id:
2558
ClinVar RCV Id:
RCV000002667
dbSNP Id:
rs387906277
PubMed:
PMID:12480927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78121130del , CM000673.2:g.78121130del | GRCh38 |
| NC_000011.9:g.77832176del , CM000673.1:g.77832176del | GRCh37 |
| NC_000011.8:g.77509824del | NCBI36 |
| NG_008926.1:g.23524del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299626.10:c.413del MANE Select | ENSP00000299626.5:p.Thr138LysfsTer19 | |
| ENST00000524925.2:n.525del | ||
| ENST00000525755.6:c.*45del | ENSP00000435467.2:n.*45del | |
| ENST00000525761.3:c.149del | ENSP00000431357.3:p.Thr50LysfsTer19 | |
| ENST00000525783.6:c.149del | ENSP00000434066.2:p.Thr50LysfsTer19 | |
| ENST00000525870.6:c.413del | ENSP00000435417.2:p.Thr138LysfsTer19 | |
| ENST00000526737.6:c.409del | ENSP00000436366.2:p.Gln137ArgfsTer? | |
| ENST00000526849.6:c.396+17del | ENSP00000434388.2:n.396+17del | |
| ENST00000527099.2:c.149del | ENSP00000436064.2:p.Thr50LysfsTer19 | |
| ENST00000529139.6:c.413del | ENSP00000432953.2:p.Thr138LysfsTer19 | |
| ENST00000530454.6:c.413del | ENSP00000434660.2:p.Thr138LysfsTer19 | |
| ENST00000530608.6:c.212del | ENSP00000432381.2:p.Thr71LysfsTer19 | |
| ENST00000530910.6:c.149del | ENSP00000437033.2:p.Thr50LysfsTer19 | |
| ENST00000532306.6:c.413del | ENSP00000435626.2:p.Thr138LysfsTer19 | |
| ENST00000532440.6:c.413del | ENSP00000433429.2:p.Thr138LysfsTer19 | |
| ENST00000615266.5:c.413del | ENSP00000480742.2:p.Thr138LysfsTer19 | |
| ENST00000679444.1:c.149del | ENSP00000506099.1:p.Thr50LysfsTer19 | |
| ENST00000679497.1:c.149del | ENSP00000505407.1:p.Thr50LysfsTer19 | |
| ENST00000679539.1:c.413del | ENSP00000504910.1:p.Thr138LysfsTer19 | |
| ENST00000679559.1:c.413del | ENSP00000505433.1:p.Thr138LysfsTer19 | |
| ENST00000679581.1:n.1149del | ||
| ENST00000679648.1:c.145del | ENSP00000505726.1:p.Gln49ArgfsTer? | |
| ENST00000679685.1:c.104+2891del | ENSP00000505698.1:n.104+2891del | |
| ENST00000679697.1:c.413del | ENSP00000505696.1:p.Thr138LysfsTer19 | |
| ENST00000679874.1:c.145del | ENSP00000506314.1:p.Gln49ArgfsTer? | |
| ENST00000679986.1:c.145del | ENSP00000505614.1:p.Gln49ArgfsTer? | |
| ENST00000680063.1:c.145del | ENSP00000504928.1:p.Gln49ArgfsTer? | |
| ENST00000680101.1:c.149del | ENSP00000504917.1:p.Thr50LysfsTer19 | |
| ENST00000680142.1:n.905-14218del | ||
| ENST00000680223.1:c.413del | ENSP00000505023.1:p.Thr138LysfsTer19 | |
| ENST00000680256.1:c.416del | ENSP00000505074.1:p.Thr139LysfsTer19 | |
| ENST00000680329.1:c.149del | ENSP00000506215.1:p.Thr50LysfsTer19 | |
| ENST00000680398.1:c.413del | ENSP00000506189.1:p.Thr138LysfsTer19 | |
| ENST00000680399.1:c.413del | ENSP00000505984.1:p.Thr138LysfsTer19 | |
| ENST00000680459.1:c.*36del | ENSP00000506617.1:n.*36del | |
| ENST00000680467.1:c.413del | ENSP00000505609.1:p.Thr138LysfsTer19 | |
| ENST00000680499.1:c.149del | ENSP00000506092.1:p.Thr50LysfsTer19 | |
| ENST00000680580.1:c.149del | ENSP00000506170.1:p.Thr50LysfsTer19 | |
| ENST00000680643.1:c.413del | ENSP00000505207.1:p.Thr138LysfsTer19 | |
| ENST00000680650.1:n.319del | ||
| ENST00000680761.1:c.149del | ENSP00000506421.1:p.Thr50LysfsTer19 | |
| ENST00000680797.1:c.145del | ENSP00000506717.1:p.Gln49ArgfsTer? | |
| ENST00000680829.1:c.149del | ENSP00000506408.1:p.Thr50LysfsTer19 | |
| ENST00000680866.1:c.413del | ENSP00000505649.1:p.Thr138LysfsTer19 | |
| ENST00000680996.1:c.149del | ENSP00000505468.1:p.Thr50LysfsTer19 | |
| ENST00000681221.1:c.149del | ENSP00000505136.1:p.Thr50LysfsTer19 | |
| ENST00000681225.1:c.149del | ENSP00000505016.1:p.Thr50LysfsTer19 | |
| ENST00000681351.1:c.149del | ENSP00000506652.1:p.Thr50LysfsTer19 | |
| ENST00000681384.1:c.149del | ENSP00000506249.1:p.Thr50LysfsTer19 | |
| ENST00000681417.1:c.149del | ENSP00000505965.1:p.Thr50LysfsTer19 | |
| ENST00000681489.1:c.149del | ENSP00000505200.1:p.Thr50LysfsTer19 | |
| ENST00000681575.1:c.149del | ENSP00000505743.1:p.Thr50LysfsTer19 | |
| ENST00000681699.1:c.149del | ENSP00000504969.1:p.Thr50LysfsTer19 | |
| ENST00000681723.1:c.149del | ENSP00000506059.1:p.Thr50LysfsTer19 | |
| ENST00000681765.1:c.149del | ENSP00000505811.1:p.Thr50LysfsTer19 | |
| ENST00000681853.1:n.1107del | ||
| ENST00000681957.1:c.413del | ENSP00000506056.1:p.Thr138LysfsTer19 | |
| ENST00000299626.9:c.413del | ENSP00000299626.5:p.Thr138LysfsTer19 | |
| ENST00000376156.7:c.413del | ENSP00000365326.3:p.Thr138LysfsTer19 | |
| ENST00000525755.5:c.260del | ENSP00000435467.1:p.Thr87LysfsTer19 | |
| ENST00000525870.5:c.149del | ENSP00000435417.1:p.Thr50LysfsTer19 | |
| ENST00000526737.5:c.*45del | ENSP00000436366.1:n.*45del | |
| ENST00000527099.1:c.149del | ENSP00000436064.1:p.Thr50LysfsTer19 | |
| ENST00000530454.5:c.416del | ENSP00000434660.1:p.Thr139LysfsTer19 | |
| ENST00000532050.5:c.413del | ENSP00000437199.1:p.Thr138LysfsTer19 | |
| ENST00000532306.5:c.34del | ||
| ENST00000532552.2:n.122-11549del | ||
| ENST00000615266.4:c.413del | ENSP00000480742.1:p.Thr138LysfsTer19 | |
| NM_001007027.2:c.413del | NP_001007028.1:p.Thr138LysfsTer19 | |
| NM_024079.4:c.413del | NP_076984.2:p.Thr138LysfsTer19 | |
| XM_005274247.2:c.386del | XP_005274304.1:p.Thr129LysfsTer19 | |
| XM_011545251.1:c.413del | XP_011543553.1:p.Thr138LysfsTer19 | |
| XM_011545252.1:c.149del | XP_011543554.1:p.Thr50LysfsTer19 | |
| XR_428923.2:n.485del | ||
| XR_950044.1:n.485del | ||
| XR_950045.1:n.485del | ||
| XM_005274247.3:c.386del | XP_005274304.1:p.Thr129LysfsTer19 | |
| XM_011545252.2:c.149del | XP_011543554.1:p.Thr50LysfsTer19 | |
| XM_017018274.1:c.386del | XP_016873763.1:p.Thr129LysfsTer19 | |
| XR_001747956.1:n.1235del | ||
| XR_428923.4:n.468del | ||
| XR_950044.3:n.468del | ||
| XR_950045.3:n.468del | ||
| NM_024079.5:c.413del MANE Select | NP_076984.2:p.Thr138LysfsTer19 | |
| NM_001007027.3:c.413del | NP_001007028.1:p.Thr138LysfsTer19 |