Canonical Allele Identifier: CA2579780168
Gene: TPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144648861_144648863delinsAAG , CM000669.2:g.144648861_144648863delinsAAG GRCh38
NC_000007.13:g.144345954_144345956delinsAAG , CM000669.1:g.144345954_144345956delinsAAG GRCh37
NC_000007.12:g.143976887_143976889delinsAAG NCBI36
NG_032112.1:g.192191_192193delinsCTT
NG_032112.2:g.192191_192193delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000639328.1:c.-117_-115delinsCTT ENSP00000491869.1:n.-117_-115delinsCTT
ENST00000360057.7:c.202_204delinsCTT MANE Select ENSP00000353165.3:p.Ile68Leu
ENST00000378098.8:c.202_204delinsCTT ENSP00000367338.4:p.Ile68Leu
ENST00000378099.7:c.202_204delinsCTT ENSP00000367339.3:p.Ile68Leu
ENST00000481645.5:n.292_294delinsCTT
ENST00000482940.5:c.*5_*7delinsCTT ENSP00000449909.1:n.*5_*7delinsCTT
ENST00000489798.5:c.66_68delinsCTT ENSP00000450028.1:p.Ser23Leu
ENST00000538212.6:c.187_189delinsCTT ENSP00000438813.2:p.Ile63Leu
ENST00000547966.5:n.100_102delinsCTT
ENST00000551062.5:n.116_118delinsCTT
ENST00000552881.1:c.202_204delinsCTT ENSP00000448655.1:p.Ile68Leu
NM_001042482.1:c.202_204delinsCTT NP_001035947.1:p.Ile68Leu
NM_022445.3:c.202_204delinsCTT NP_071890.2:p.Ile68Leu
XM_005249970.1:c.202_204delinsCTT XP_005250027.1:p.Ile68Leu
XM_006715925.2:c.-60-25602_-60-25600delinsCTT XP_006715988.1:n.-60-25602_-60-25600delinsCTT
XM_011516031.1:c.202_204delinsCTT XP_011514333.1:p.Ile68Leu
XM_011516032.1:c.202_204delinsCTT XP_011514334.1:p.Ile68Leu
XM_011516033.1:c.202_204delinsCTT XP_011514335.1:p.Ile68Leu
XM_011516034.1:c.202_204delinsCTT XP_011514336.1:p.Ile68Leu
XM_011516035.1:c.202_204delinsCTT XP_011514337.1:p.Ile68Leu
XM_011516036.1:c.187_189delinsCTT XP_011514338.1:p.Ile63Leu
XM_011516037.1:c.187_189delinsCTT XP_011514339.1:p.Ile63Leu
XM_011516038.1:c.187_189delinsCTT XP_011514340.1:p.Ile63Leu
XM_011516039.1:c.124_126delinsCTT XP_011514341.1:p.Ile42Leu
XM_011516040.1:c.202_204delinsCTT XP_011514342.1:p.Ile68Leu
XM_011516041.1:c.187_189delinsCTT XP_011514343.1:p.Ile63Leu
XM_011516042.1:c.202_204delinsCTT XP_011514344.1:p.Ile68Leu
XM_011516043.1:c.202_204delinsCTT XP_011514345.1:p.Ile68Leu
XM_011516044.1:c.187_189delinsCTT XP_011514346.1:p.Ile63Leu
XM_011516045.1:c.-252_-250delinsCTT XP_011514347.1:n.-252_-250delinsCTT
XM_011516046.1:c.202_204delinsCTT XP_011514348.1:p.Ile68Leu
XM_011516047.1:c.-117_-115delinsCTT XP_011514349.1:n.-117_-115delinsCTT
XM_011516048.1:c.-117_-115delinsCTT XP_011514350.1:n.-117_-115delinsCTT
XM_011516049.1:c.-195_-193delinsCTT XP_011514351.1:n.-195_-193delinsCTT
XM_011516050.1:c.-195_-193delinsCTT XP_011514352.1:n.-195_-193delinsCTT
XR_927446.1:n.306_308delinsCTT
XR_927448.1:n.306_308delinsCTT
XR_927450.1:n.306_308delinsCTT
XR_927451.1:n.306_308delinsCTT
XR_927453.1:n.305_307delinsCTT
NM_001350879.1:c.202_204delinsCTT NP_001337808.1:p.Ile68Leu
NM_001350880.1:c.202_204delinsCTT NP_001337809.1:p.Ile68Leu
NM_001350881.1:c.202_204delinsCTT NP_001337810.1:p.Ile68Leu
NM_001350882.1:c.187_189delinsCTT NP_001337811.1:p.Ile63Leu
NM_001350883.1:c.187_189delinsCTT NP_001337812.1:p.Ile63Leu
NM_001350884.1:c.187_189delinsCTT NP_001337813.1:p.Ile63Leu
NM_001350885.1:c.-117_-115delinsCTT NP_001337814.1:n.-117_-115delinsCTT
NM_001350886.1:c.-195_-193delinsCTT NP_001337815.1:n.-195_-193delinsCTT
NM_001350887.1:c.-60-25602_-60-25600delinsCTT NP_001337816.1:n.-60-25602_-60-25600delinsCTT
NM_001350889.1:c.-60-25602_-60-25600delinsCTT NP_001337818.1:n.-60-25602_-60-25600delinsCTT
NM_001350893.1:c.-117_-115delinsCTT NP_001337822.1:n.-117_-115delinsCTT
NM_001350894.1:c.-60-25602_-60-25600delinsCTT NP_001337823.1:n.-60-25602_-60-25600delinsCTT
NM_001350895.1:c.-272_-270delinsCTT NP_001337824.1:n.-272_-270delinsCTT
NR_146934.1:n.246_248delinsCTT
NR_146935.1:n.385_387delinsCTT
NR_146936.1:n.453_455delinsCTT
XM_011516032.2:c.202_204delinsCTT XP_011514334.1:p.Ile68Leu
XM_011516033.2:c.202_204delinsCTT XP_011514335.1:p.Ile68Leu
XM_011516034.2:c.202_204delinsCTT XP_011514336.1:p.Ile68Leu
XM_011516035.3:c.202_204delinsCTT XP_011514337.1:p.Ile68Leu
XM_011516037.2:c.187_189delinsCTT XP_011514339.1:p.Ile63Leu
XM_011516039.2:c.124_126delinsCTT XP_011514341.1:p.Ile42Leu
XM_011516040.2:c.202_204delinsCTT XP_011514342.1:p.Ile68Leu
XM_011516047.2:c.-117_-115delinsCTT XP_011514349.1:n.-117_-115delinsCTT
XM_017011969.1:c.202_204delinsCTT XP_016867458.1:p.Ile68Leu
XM_017011970.1:c.187_189delinsCTT XP_016867459.1:p.Ile63Leu
XM_017011971.1:c.187_189delinsCTT XP_016867460.1:p.Ile63Leu
XM_017011972.1:c.202_204delinsCTT XP_016867461.1:p.Ile68Leu
XM_017011974.1:c.124_126delinsCTT XP_016867463.1:p.Ile42Leu
XM_017011975.1:c.124_126delinsCTT XP_016867464.1:p.Ile42Leu
XM_017011982.1:c.-117_-115delinsCTT XP_016867471.1:n.-117_-115delinsCTT
XM_024446715.1:c.187_189delinsCTT XP_024302483.1:p.Ile63Leu
XM_024446716.1:c.-272_-270delinsCTT XP_024302484.1:n.-272_-270delinsCTT
XM_024446717.1:c.-195_-193delinsCTT XP_024302485.1:n.-195_-193delinsCTT
XR_001744630.1:n.306_308delinsCTT
NM_022445.4:c.202_204delinsCTT MANE Select NP_071890.2:p.Ile68Leu
NM_001350884.2:c.187_189delinsCTT NP_001337813.1:p.Ile63Leu
NR_146936.2:n.429_431delinsCTT
NM_001042482.2:c.202_204delinsCTT NP_001035947.1:p.Ile68Leu