Canonical Allele Identifier: CA1917773225
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384499_69384500delinsTA , CM000672.2:g.69384499_69384500delinsTA GRCh38
NC_000010.10:g.71144255_71144256delinsTA , CM000672.1:g.71144255_71144256delinsTA GRCh37
NC_000010.9:g.70814261_70814262delinsTA NCBI36
NG_012077.1:g.119500_119501delinsTA , LRG_365:g.119500_119501delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1719+18_1719+19delinsTA ENSP00000515580.1:n.1719+18_1719+19delinsTA
ENST00000703945.1:c.1635+18_1635+19delinsTA ENSP00000515578.1:n.1635+18_1635+19delinsTA
ENST00000703946.1:c.1265+4404_1265+4405delinsTA ENSP00000515579.1:n.1265+4404_1265+4405delinsTA
ENST00000703947.1:c.1329+18_1329+19delinsTA ENSP00000515581.1:n.1329+18_1329+19delinsTA
ENST00000703948.1:c.*1336+18_*1336+19delinsTA ENSP00000515582.1:n.*1336+18_*1336+19delinsTA
ENST00000703949.1:c.1719+18_1719+19delinsTA ENSP00000515583.1:n.1719+18_1719+19delinsTA
ENST00000703950.1:c.1719+18_1719+19delinsTA ENSP00000515584.1:n.1719+18_1719+19delinsTA
ENST00000703951.1:c.1265+4404_1265+4405delinsTA ENSP00000515585.1:n.1265+4404_1265+4405delinsTA
ENST00000703952.1:c.1265+4404_1265+4405delinsTA ENSP00000515586.1:n.1265+4404_1265+4405delinsTA
ENST00000703953.1:c.*982+18_*982+19delinsTA ENSP00000515587.1:n.*982+18_*982+19delinsTA
ENST00000703954.1:c.1599+18_1599+19delinsTA ENSP00000515588.1:n.1599+18_1599+19delinsTA
ENST00000703955.1:n.2269+18_2269+19delinsTA
ENST00000703957.1:n.224+18_224+19delinsTA
ENST00000298649.8:c.1716+18_1716+19delinsTA ENSP00000298649.3:n.1716+18_1716+19delinsTA
ENST00000359426.7:c.1719+18_1719+19delinsTA MANE Select ENSP00000352398.6:n.1719+18_1719+19delinsTA
ENST00000436817.6:c.1731+18_1731+19delinsTA ENSP00000415949.2:n.1731+18_1731+19delinsTA
ENST00000493591.6:c.*1607+18_*1607+19delinsTA ENSP00000494917.1:n.*1607+18_*1607+19delinsTA
ENST00000643399.2:c.1731+18_1731+19delinsTA MANE Plus Clinical ENSP00000494664.1:n.1731+18_1731+19delinsTA
ENST00000298649.7:c.1716+18_1716+19delinsTA ENSP00000298649.3:n.1716+18_1716+19delinsTA
ENST00000359426.6:c.1719+18_1719+19delinsTA ENSP00000352398.6:n.1719+18_1719+19delinsTA
ENST00000360289.6:c.1683+18_1683+19delinsTA ENSP00000353433.2:n.1683+18_1683+19delinsTA
ENST00000448642.6:c.1731+18_1731+19delinsTA ENSP00000402103.3:n.1731+18_1731+19delinsTA
ENST00000494253.1:n.1963_1964delinsTA
NM_000188.2:c.1719+18_1719+19delinsTA NP_000179.2:n.1719+18_1719+19delinsTA
NM_033496.2:c.1716+18_1716+19delinsTA NP_277031.1:n.1716+18_1716+19delinsTA
NM_033497.2:c.1731+18_1731+19delinsTA NP_277032.1:n.1731+18_1731+19delinsTA
NM_033498.2:c.1731+18_1731+19delinsTA NP_277033.1:n.1731+18_1731+19delinsTA
NM_033500.2:c.1683+18_1683+19delinsTA , LRG_365t1:c.1683+18_1683+19delinsTA NP_277035.2:n.1683+18_1683+19delinsTA
XM_005269735.2:c.1848+18_1848+19delinsTA XP_005269792.1:n.1848+18_1848+19delinsTA
XM_005269736.1:c.1731+18_1731+19delinsTA XP_005269793.1:n.1731+18_1731+19delinsTA
XM_005269737.1:c.1635+18_1635+19delinsTA XP_005269794.1:n.1635+18_1635+19delinsTA
XM_011539732.1:c.1683+18_1683+19delinsTA XP_011538034.1:n.1683+18_1683+19delinsTA
XM_011539733.1:c.1677+18_1677+19delinsTA XP_011538035.1:n.1677+18_1677+19delinsTA
XM_011539734.1:c.1674+18_1674+19delinsTA XP_011538036.1:n.1674+18_1674+19delinsTA
NM_001322364.1:c.1731+18_1731+19delinsTA NP_001309293.1:n.1731+18_1731+19delinsTA
NM_001322365.1:c.1824+18_1824+19delinsTA NP_001309294.1:n.1824+18_1824+19delinsTA
NM_001322366.1:c.1635+18_1635+19delinsTA NP_001309295.1:n.1635+18_1635+19delinsTA
NM_001322367.1:c.1623+18_1623+19delinsTA NP_001309296.1:n.1623+18_1623+19delinsTA
NM_001358263.1:c.1731+18_1731+19delinsTA MANE Plus Clinical NP_001345192.1:n.1731+18_1731+19delinsTA
XM_024447969.1:c.1731+18_1731+19delinsTA XP_024303737.1:n.1731+18_1731+19delinsTA
NM_000188.3:c.1719+18_1719+19delinsTA MANE Select NP_000179.2:n.1719+18_1719+19delinsTA
NM_001322364.2:c.1731+18_1731+19delinsTA NP_001309293.1:n.1731+18_1731+19delinsTA
NM_001322365.2:c.1824+18_1824+19delinsTA NP_001309294.1:n.1824+18_1824+19delinsTA
NM_033496.3:c.1716+18_1716+19delinsTA NP_277031.1:n.1716+18_1716+19delinsTA
NM_033497.3:c.1731+18_1731+19delinsTA NP_277032.1:n.1731+18_1731+19delinsTA
NM_033498.3:c.1731+18_1731+19delinsTA NP_277033.1:n.1731+18_1731+19delinsTA