Canonical Allele Identifier: CA2579783601
Gene: TPK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144648819_144648821delinsCTG , CM000669.2:g.144648819_144648821delinsCTG GRCh38
NC_000007.13:g.144345912_144345914delinsCTG , CM000669.1:g.144345912_144345914delinsCTG GRCh37
NC_000007.12:g.143976845_143976847delinsCTG NCBI36
NG_032112.1:g.192233_192235delinsCAG
NG_032112.2:g.192233_192235delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000639328.1:c.-75_-73delinsCAG ENSP00000491869.1:n.-75_-73delinsCAG
ENST00000360057.7:c.244_246delinsCAG MANE Select ENSP00000353165.3:p.Tyr82Gln
ENST00000378098.8:c.244_246delinsCAG ENSP00000367338.4:p.Tyr82Gln
ENST00000378099.7:c.244_246delinsCAG ENSP00000367339.3:p.Tyr82Gln
ENST00000481645.5:n.334_336delinsCAG
ENST00000482940.5:c.*47_*49delinsCAG ENSP00000449909.1:n.*47_*49delinsCAG
ENST00000489798.5:c.108_110delinsCAG ENSP00000450028.1:p.Thr37Ser
ENST00000538212.6:c.229_231delinsCAG ENSP00000438813.2:p.Tyr77Gln
ENST00000547966.5:n.142_144delinsCAG
ENST00000551062.5:n.158_160delinsCAG
ENST00000552881.1:c.244_246delinsCAG ENSP00000448655.1:p.Tyr82Gln
NM_001042482.1:c.244_246delinsCAG NP_001035947.1:p.Tyr82Gln
NM_022445.3:c.244_246delinsCAG NP_071890.2:p.Tyr82Gln
XM_005249970.1:c.244_246delinsCAG XP_005250027.1:p.Tyr82Gln
XM_006715925.2:c.-60-25560_-60-25558delinsCAG XP_006715988.1:n.-60-25560_-60-25558delinsCAG
XM_011516031.1:c.244_246delinsCAG XP_011514333.1:p.Tyr82Gln
XM_011516032.1:c.244_246delinsCAG XP_011514334.1:p.Tyr82Gln
XM_011516033.1:c.244_246delinsCAG XP_011514335.1:p.Tyr82Gln
XM_011516034.1:c.244_246delinsCAG XP_011514336.1:p.Tyr82Gln
XM_011516035.1:c.244_246delinsCAG XP_011514337.1:p.Tyr82Gln
XM_011516036.1:c.229_231delinsCAG XP_011514338.1:p.Tyr77Gln
XM_011516037.1:c.229_231delinsCAG XP_011514339.1:p.Tyr77Gln
XM_011516038.1:c.229_231delinsCAG XP_011514340.1:p.Tyr77Gln
XM_011516039.1:c.166_168delinsCAG XP_011514341.1:p.Tyr56Gln
XM_011516040.1:c.244_246delinsCAG XP_011514342.1:p.Tyr82Gln
XM_011516041.1:c.229_231delinsCAG XP_011514343.1:p.Tyr77Gln
XM_011516042.1:c.244_246delinsCAG XP_011514344.1:p.Tyr82Gln
XM_011516043.1:c.244_246delinsCAG XP_011514345.1:p.Tyr82Gln
XM_011516044.1:c.229_231delinsCAG XP_011514346.1:p.Tyr77Gln
XM_011516045.1:c.-210_-208delinsCAG XP_011514347.1:n.-210_-208delinsCAG
XM_011516046.1:c.244_246delinsCAG XP_011514348.1:p.Tyr82Gln
XM_011516047.1:c.-75_-73delinsCAG XP_011514349.1:n.-75_-73delinsCAG
XM_011516048.1:c.-75_-73delinsCAG XP_011514350.1:n.-75_-73delinsCAG
XM_011516049.1:c.-153_-151delinsCAG XP_011514351.1:n.-153_-151delinsCAG
XM_011516050.1:c.-153_-151delinsCAG XP_011514352.1:n.-153_-151delinsCAG
XR_927446.1:n.348_350delinsCAG
XR_927448.1:n.348_350delinsCAG
XR_927450.1:n.348_350delinsCAG
XR_927451.1:n.348_350delinsCAG
XR_927453.1:n.347_349delinsCAG
NM_001350879.1:c.244_246delinsCAG NP_001337808.1:p.Tyr82Gln
NM_001350880.1:c.244_246delinsCAG NP_001337809.1:p.Tyr82Gln
NM_001350881.1:c.244_246delinsCAG NP_001337810.1:p.Tyr82Gln
NM_001350882.1:c.229_231delinsCAG NP_001337811.1:p.Tyr77Gln
NM_001350883.1:c.229_231delinsCAG NP_001337812.1:p.Tyr77Gln
NM_001350884.1:c.229_231delinsCAG NP_001337813.1:p.Tyr77Gln
NM_001350885.1:c.-75_-73delinsCAG NP_001337814.1:n.-75_-73delinsCAG
NM_001350886.1:c.-153_-151delinsCAG NP_001337815.1:n.-153_-151delinsCAG
NM_001350887.1:c.-60-25560_-60-25558delinsCAG NP_001337816.1:n.-60-25560_-60-25558delinsCAG
NM_001350889.1:c.-60-25560_-60-25558delinsCAG NP_001337818.1:n.-60-25560_-60-25558delinsCAG
NM_001350893.1:c.-75_-73delinsCAG NP_001337822.1:n.-75_-73delinsCAG
NM_001350894.1:c.-60-25560_-60-25558delinsCAG NP_001337823.1:n.-60-25560_-60-25558delinsCAG
NM_001350895.1:c.-230_-228delinsCAG NP_001337824.1:n.-230_-228delinsCAG
NR_146934.1:n.288_290delinsCAG
NR_146935.1:n.427_429delinsCAG
NR_146936.1:n.495_497delinsCAG
XM_011516032.2:c.244_246delinsCAG XP_011514334.1:p.Tyr82Gln
XM_011516033.2:c.244_246delinsCAG XP_011514335.1:p.Tyr82Gln
XM_011516034.2:c.244_246delinsCAG XP_011514336.1:p.Tyr82Gln
XM_011516035.3:c.244_246delinsCAG XP_011514337.1:p.Tyr82Gln
XM_011516037.2:c.229_231delinsCAG XP_011514339.1:p.Tyr77Gln
XM_011516039.2:c.166_168delinsCAG XP_011514341.1:p.Tyr56Gln
XM_011516040.2:c.244_246delinsCAG XP_011514342.1:p.Tyr82Gln
XM_011516047.2:c.-75_-73delinsCAG XP_011514349.1:n.-75_-73delinsCAG
XM_017011969.1:c.244_246delinsCAG XP_016867458.1:p.Tyr82Gln
XM_017011970.1:c.229_231delinsCAG XP_016867459.1:p.Tyr77Gln
XM_017011971.1:c.229_231delinsCAG XP_016867460.1:p.Tyr77Gln
XM_017011972.1:c.244_246delinsCAG XP_016867461.1:p.Tyr82Gln
XM_017011974.1:c.166_168delinsCAG XP_016867463.1:p.Tyr56Gln
XM_017011975.1:c.166_168delinsCAG XP_016867464.1:p.Tyr56Gln
XM_017011982.1:c.-75_-73delinsCAG XP_016867471.1:n.-75_-73delinsCAG
XM_024446715.1:c.229_231delinsCAG XP_024302483.1:p.Tyr77Gln
XM_024446716.1:c.-230_-228delinsCAG XP_024302484.1:n.-230_-228delinsCAG
XM_024446717.1:c.-153_-151delinsCAG XP_024302485.1:n.-153_-151delinsCAG
XR_001744630.1:n.348_350delinsCAG
NM_022445.4:c.244_246delinsCAG MANE Select NP_071890.2:p.Tyr82Gln
NM_001350884.2:c.229_231delinsCAG NP_001337813.1:p.Tyr77Gln
NR_146936.2:n.471_473delinsCAG
NM_001042482.2:c.244_246delinsCAG NP_001035947.1:p.Tyr82Gln