MaveDb:
Score
-0.1410978082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144648861_144648863delinsCTG , CM000669.2:g.144648861_144648863delinsCTG | GRCh38 |
| NC_000007.13:g.144345954_144345956delinsCTG , CM000669.1:g.144345954_144345956delinsCTG | GRCh37 |
| NC_000007.12:g.143976887_143976889delinsCTG | NCBI36 |
| NG_032112.1:g.192191_192193delinsCAG | |
| NG_032112.2:g.192191_192193delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639328.1:c.-117_-115delinsCAG | ENSP00000491869.1:n.-117_-115delinsCAG | |
| ENST00000360057.7:c.202_204delinsCAG MANE Select | ENSP00000353165.3:p.Ile68Gln | |
| ENST00000378098.8:c.202_204delinsCAG | ENSP00000367338.4:p.Ile68Gln | |
| ENST00000378099.7:c.202_204delinsCAG | ENSP00000367339.3:p.Ile68Gln | |
| ENST00000481645.5:n.292_294delinsCAG | ||
| ENST00000482940.5:c.*5_*7delinsCAG | ENSP00000449909.1:n.*5_*7delinsCAG | |
| ENST00000489798.5:c.66_68delinsCAG | ENSP00000450028.1:p.Ser23Arg | |
| ENST00000538212.6:c.187_189delinsCAG | ENSP00000438813.2:p.Ile63Gln | |
| ENST00000547966.5:n.100_102delinsCAG | ||
| ENST00000551062.5:n.116_118delinsCAG | ||
| ENST00000552881.1:c.202_204delinsCAG | ENSP00000448655.1:p.Ile68Gln | |
| NM_001042482.1:c.202_204delinsCAG | NP_001035947.1:p.Ile68Gln | |
| NM_022445.3:c.202_204delinsCAG | NP_071890.2:p.Ile68Gln | |
| XM_005249970.1:c.202_204delinsCAG | XP_005250027.1:p.Ile68Gln | |
| XM_006715925.2:c.-60-25602_-60-25600delinsCAG | XP_006715988.1:n.-60-25602_-60-25600delinsCAG | |
| XM_011516031.1:c.202_204delinsCAG | XP_011514333.1:p.Ile68Gln | |
| XM_011516032.1:c.202_204delinsCAG | XP_011514334.1:p.Ile68Gln | |
| XM_011516033.1:c.202_204delinsCAG | XP_011514335.1:p.Ile68Gln | |
| XM_011516034.1:c.202_204delinsCAG | XP_011514336.1:p.Ile68Gln | |
| XM_011516035.1:c.202_204delinsCAG | XP_011514337.1:p.Ile68Gln | |
| XM_011516036.1:c.187_189delinsCAG | XP_011514338.1:p.Ile63Gln | |
| XM_011516037.1:c.187_189delinsCAG | XP_011514339.1:p.Ile63Gln | |
| XM_011516038.1:c.187_189delinsCAG | XP_011514340.1:p.Ile63Gln | |
| XM_011516039.1:c.124_126delinsCAG | XP_011514341.1:p.Ile42Gln | |
| XM_011516040.1:c.202_204delinsCAG | XP_011514342.1:p.Ile68Gln | |
| XM_011516041.1:c.187_189delinsCAG | XP_011514343.1:p.Ile63Gln | |
| XM_011516042.1:c.202_204delinsCAG | XP_011514344.1:p.Ile68Gln | |
| XM_011516043.1:c.202_204delinsCAG | XP_011514345.1:p.Ile68Gln | |
| XM_011516044.1:c.187_189delinsCAG | XP_011514346.1:p.Ile63Gln | |
| XM_011516045.1:c.-252_-250delinsCAG | XP_011514347.1:n.-252_-250delinsCAG | |
| XM_011516046.1:c.202_204delinsCAG | XP_011514348.1:p.Ile68Gln | |
| XM_011516047.1:c.-117_-115delinsCAG | XP_011514349.1:n.-117_-115delinsCAG | |
| XM_011516048.1:c.-117_-115delinsCAG | XP_011514350.1:n.-117_-115delinsCAG | |
| XM_011516049.1:c.-195_-193delinsCAG | XP_011514351.1:n.-195_-193delinsCAG | |
| XM_011516050.1:c.-195_-193delinsCAG | XP_011514352.1:n.-195_-193delinsCAG | |
| XR_927446.1:n.306_308delinsCAG | ||
| XR_927448.1:n.306_308delinsCAG | ||
| XR_927450.1:n.306_308delinsCAG | ||
| XR_927451.1:n.306_308delinsCAG | ||
| XR_927453.1:n.305_307delinsCAG | ||
| NM_001350879.1:c.202_204delinsCAG | NP_001337808.1:p.Ile68Gln | |
| NM_001350880.1:c.202_204delinsCAG | NP_001337809.1:p.Ile68Gln | |
| NM_001350881.1:c.202_204delinsCAG | NP_001337810.1:p.Ile68Gln | |
| NM_001350882.1:c.187_189delinsCAG | NP_001337811.1:p.Ile63Gln | |
| NM_001350883.1:c.187_189delinsCAG | NP_001337812.1:p.Ile63Gln | |
| NM_001350884.1:c.187_189delinsCAG | NP_001337813.1:p.Ile63Gln | |
| NM_001350885.1:c.-117_-115delinsCAG | NP_001337814.1:n.-117_-115delinsCAG | |
| NM_001350886.1:c.-195_-193delinsCAG | NP_001337815.1:n.-195_-193delinsCAG | |
| NM_001350887.1:c.-60-25602_-60-25600delinsCAG | NP_001337816.1:n.-60-25602_-60-25600delinsCAG | |
| NM_001350889.1:c.-60-25602_-60-25600delinsCAG | NP_001337818.1:n.-60-25602_-60-25600delinsCAG | |
| NM_001350893.1:c.-117_-115delinsCAG | NP_001337822.1:n.-117_-115delinsCAG | |
| NM_001350894.1:c.-60-25602_-60-25600delinsCAG | NP_001337823.1:n.-60-25602_-60-25600delinsCAG | |
| NM_001350895.1:c.-272_-270delinsCAG | NP_001337824.1:n.-272_-270delinsCAG | |
| NR_146934.1:n.246_248delinsCAG | ||
| NR_146935.1:n.385_387delinsCAG | ||
| NR_146936.1:n.453_455delinsCAG | ||
| XM_011516032.2:c.202_204delinsCAG | XP_011514334.1:p.Ile68Gln | |
| XM_011516033.2:c.202_204delinsCAG | XP_011514335.1:p.Ile68Gln | |
| XM_011516034.2:c.202_204delinsCAG | XP_011514336.1:p.Ile68Gln | |
| XM_011516035.3:c.202_204delinsCAG | XP_011514337.1:p.Ile68Gln | |
| XM_011516037.2:c.187_189delinsCAG | XP_011514339.1:p.Ile63Gln | |
| XM_011516039.2:c.124_126delinsCAG | XP_011514341.1:p.Ile42Gln | |
| XM_011516040.2:c.202_204delinsCAG | XP_011514342.1:p.Ile68Gln | |
| XM_011516047.2:c.-117_-115delinsCAG | XP_011514349.1:n.-117_-115delinsCAG | |
| XM_017011969.1:c.202_204delinsCAG | XP_016867458.1:p.Ile68Gln | |
| XM_017011970.1:c.187_189delinsCAG | XP_016867459.1:p.Ile63Gln | |
| XM_017011971.1:c.187_189delinsCAG | XP_016867460.1:p.Ile63Gln | |
| XM_017011972.1:c.202_204delinsCAG | XP_016867461.1:p.Ile68Gln | |
| XM_017011974.1:c.124_126delinsCAG | XP_016867463.1:p.Ile42Gln | |
| XM_017011975.1:c.124_126delinsCAG | XP_016867464.1:p.Ile42Gln | |
| XM_017011982.1:c.-117_-115delinsCAG | XP_016867471.1:n.-117_-115delinsCAG | |
| XM_024446715.1:c.187_189delinsCAG | XP_024302483.1:p.Ile63Gln | |
| XM_024446716.1:c.-272_-270delinsCAG | XP_024302484.1:n.-272_-270delinsCAG | |
| XM_024446717.1:c.-195_-193delinsCAG | XP_024302485.1:n.-195_-193delinsCAG | |
| XR_001744630.1:n.306_308delinsCAG | ||
| NM_022445.4:c.202_204delinsCAG MANE Select | NP_071890.2:p.Ile68Gln | |
| NM_001350884.2:c.187_189delinsCAG | NP_001337813.1:p.Ile63Gln | |
| NR_146936.2:n.429_431delinsCAG | ||
| NM_001042482.2:c.202_204delinsCAG | NP_001035947.1:p.Ile68Gln |