MaveDb:
Score
-0.1609326128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144648819_144648821delinsCAG , CM000669.2:g.144648819_144648821delinsCAG | GRCh38 |
| NC_000007.13:g.144345912_144345914delinsCAG , CM000669.1:g.144345912_144345914delinsCAG | GRCh37 |
| NC_000007.12:g.143976845_143976847delinsCAG | NCBI36 |
| NG_032112.1:g.192233_192235delinsCTG | |
| NG_032112.2:g.192233_192235delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639328.1:c.-75_-73delinsCTG | ENSP00000491869.1:n.-75_-73delinsCTG | |
| ENST00000360057.7:c.244_246delinsCTG MANE Select | ENSP00000353165.3:p.Tyr82Leu | |
| ENST00000378098.8:c.244_246delinsCTG | ENSP00000367338.4:p.Tyr82Leu | |
| ENST00000378099.7:c.244_246delinsCTG | ENSP00000367339.3:p.Tyr82Leu | |
| ENST00000481645.5:n.334_336delinsCTG | ||
| ENST00000482940.5:c.*47_*49delinsCTG | ENSP00000449909.1:n.*47_*49delinsCTG | |
| ENST00000489798.5:c.108_110delinsCTG | ENSP00000450028.1:p.Thr37Cys | |
| ENST00000538212.6:c.229_231delinsCTG | ENSP00000438813.2:p.Tyr77Leu | |
| ENST00000547966.5:n.142_144delinsCTG | ||
| ENST00000551062.5:n.158_160delinsCTG | ||
| ENST00000552881.1:c.244_246delinsCTG | ENSP00000448655.1:p.Tyr82Leu | |
| NM_001042482.1:c.244_246delinsCTG | NP_001035947.1:p.Tyr82Leu | |
| NM_022445.3:c.244_246delinsCTG | NP_071890.2:p.Tyr82Leu | |
| XM_005249970.1:c.244_246delinsCTG | XP_005250027.1:p.Tyr82Leu | |
| XM_006715925.2:c.-60-25560_-60-25558delinsCTG | XP_006715988.1:n.-60-25560_-60-25558delinsCTG | |
| XM_011516031.1:c.244_246delinsCTG | XP_011514333.1:p.Tyr82Leu | |
| XM_011516032.1:c.244_246delinsCTG | XP_011514334.1:p.Tyr82Leu | |
| XM_011516033.1:c.244_246delinsCTG | XP_011514335.1:p.Tyr82Leu | |
| XM_011516034.1:c.244_246delinsCTG | XP_011514336.1:p.Tyr82Leu | |
| XM_011516035.1:c.244_246delinsCTG | XP_011514337.1:p.Tyr82Leu | |
| XM_011516036.1:c.229_231delinsCTG | XP_011514338.1:p.Tyr77Leu | |
| XM_011516037.1:c.229_231delinsCTG | XP_011514339.1:p.Tyr77Leu | |
| XM_011516038.1:c.229_231delinsCTG | XP_011514340.1:p.Tyr77Leu | |
| XM_011516039.1:c.166_168delinsCTG | XP_011514341.1:p.Tyr56Leu | |
| XM_011516040.1:c.244_246delinsCTG | XP_011514342.1:p.Tyr82Leu | |
| XM_011516041.1:c.229_231delinsCTG | XP_011514343.1:p.Tyr77Leu | |
| XM_011516042.1:c.244_246delinsCTG | XP_011514344.1:p.Tyr82Leu | |
| XM_011516043.1:c.244_246delinsCTG | XP_011514345.1:p.Tyr82Leu | |
| XM_011516044.1:c.229_231delinsCTG | XP_011514346.1:p.Tyr77Leu | |
| XM_011516045.1:c.-210_-208delinsCTG | XP_011514347.1:n.-210_-208delinsCTG | |
| XM_011516046.1:c.244_246delinsCTG | XP_011514348.1:p.Tyr82Leu | |
| XM_011516047.1:c.-75_-73delinsCTG | XP_011514349.1:n.-75_-73delinsCTG | |
| XM_011516048.1:c.-75_-73delinsCTG | XP_011514350.1:n.-75_-73delinsCTG | |
| XM_011516049.1:c.-153_-151delinsCTG | XP_011514351.1:n.-153_-151delinsCTG | |
| XM_011516050.1:c.-153_-151delinsCTG | XP_011514352.1:n.-153_-151delinsCTG | |
| XR_927446.1:n.348_350delinsCTG | ||
| XR_927448.1:n.348_350delinsCTG | ||
| XR_927450.1:n.348_350delinsCTG | ||
| XR_927451.1:n.348_350delinsCTG | ||
| XR_927453.1:n.347_349delinsCTG | ||
| NM_001350879.1:c.244_246delinsCTG | NP_001337808.1:p.Tyr82Leu | |
| NM_001350880.1:c.244_246delinsCTG | NP_001337809.1:p.Tyr82Leu | |
| NM_001350881.1:c.244_246delinsCTG | NP_001337810.1:p.Tyr82Leu | |
| NM_001350882.1:c.229_231delinsCTG | NP_001337811.1:p.Tyr77Leu | |
| NM_001350883.1:c.229_231delinsCTG | NP_001337812.1:p.Tyr77Leu | |
| NM_001350884.1:c.229_231delinsCTG | NP_001337813.1:p.Tyr77Leu | |
| NM_001350885.1:c.-75_-73delinsCTG | NP_001337814.1:n.-75_-73delinsCTG | |
| NM_001350886.1:c.-153_-151delinsCTG | NP_001337815.1:n.-153_-151delinsCTG | |
| NM_001350887.1:c.-60-25560_-60-25558delinsCTG | NP_001337816.1:n.-60-25560_-60-25558delinsCTG | |
| NM_001350889.1:c.-60-25560_-60-25558delinsCTG | NP_001337818.1:n.-60-25560_-60-25558delinsCTG | |
| NM_001350893.1:c.-75_-73delinsCTG | NP_001337822.1:n.-75_-73delinsCTG | |
| NM_001350894.1:c.-60-25560_-60-25558delinsCTG | NP_001337823.1:n.-60-25560_-60-25558delinsCTG | |
| NM_001350895.1:c.-230_-228delinsCTG | NP_001337824.1:n.-230_-228delinsCTG | |
| NR_146934.1:n.288_290delinsCTG | ||
| NR_146935.1:n.427_429delinsCTG | ||
| NR_146936.1:n.495_497delinsCTG | ||
| XM_011516032.2:c.244_246delinsCTG | XP_011514334.1:p.Tyr82Leu | |
| XM_011516033.2:c.244_246delinsCTG | XP_011514335.1:p.Tyr82Leu | |
| XM_011516034.2:c.244_246delinsCTG | XP_011514336.1:p.Tyr82Leu | |
| XM_011516035.3:c.244_246delinsCTG | XP_011514337.1:p.Tyr82Leu | |
| XM_011516037.2:c.229_231delinsCTG | XP_011514339.1:p.Tyr77Leu | |
| XM_011516039.2:c.166_168delinsCTG | XP_011514341.1:p.Tyr56Leu | |
| XM_011516040.2:c.244_246delinsCTG | XP_011514342.1:p.Tyr82Leu | |
| XM_011516047.2:c.-75_-73delinsCTG | XP_011514349.1:n.-75_-73delinsCTG | |
| XM_017011969.1:c.244_246delinsCTG | XP_016867458.1:p.Tyr82Leu | |
| XM_017011970.1:c.229_231delinsCTG | XP_016867459.1:p.Tyr77Leu | |
| XM_017011971.1:c.229_231delinsCTG | XP_016867460.1:p.Tyr77Leu | |
| XM_017011972.1:c.244_246delinsCTG | XP_016867461.1:p.Tyr82Leu | |
| XM_017011974.1:c.166_168delinsCTG | XP_016867463.1:p.Tyr56Leu | |
| XM_017011975.1:c.166_168delinsCTG | XP_016867464.1:p.Tyr56Leu | |
| XM_017011982.1:c.-75_-73delinsCTG | XP_016867471.1:n.-75_-73delinsCTG | |
| XM_024446715.1:c.229_231delinsCTG | XP_024302483.1:p.Tyr77Leu | |
| XM_024446716.1:c.-230_-228delinsCTG | XP_024302484.1:n.-230_-228delinsCTG | |
| XM_024446717.1:c.-153_-151delinsCTG | XP_024302485.1:n.-153_-151delinsCTG | |
| XR_001744630.1:n.348_350delinsCTG | ||
| NM_022445.4:c.244_246delinsCTG MANE Select | NP_071890.2:p.Tyr82Leu | |
| NM_001350884.2:c.229_231delinsCTG | NP_001337813.1:p.Tyr77Leu | |
| NR_146936.2:n.471_473delinsCTG | ||
| NM_001042482.2:c.244_246delinsCTG | NP_001035947.1:p.Tyr82Leu |