Canonical Allele Identifier: CA1917773243
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384514_69384516delinsGCA , CM000672.2:g.69384514_69384516delinsGCA GRCh38
NC_000010.10:g.71144270_71144272delinsGCA , CM000672.1:g.71144270_71144272delinsGCA GRCh37
NC_000010.9:g.70814276_70814278delinsGCA NCBI36
NG_012077.1:g.119515_119517delinsGCA , LRG_365:g.119515_119517delinsGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1719+33_1719+35delinsGCA ENSP00000515580.1:n.1719+33_1719+35delinsGCA
ENST00000703945.1:c.1635+33_1635+35delinsGCA ENSP00000515578.1:n.1635+33_1635+35delinsGCA
ENST00000703946.1:c.1265+4419_1265+4421delinsGCA ENSP00000515579.1:n.1265+4419_1265+4421delinsGCA
ENST00000703947.1:c.1329+33_1329+35delinsGCA ENSP00000515581.1:n.1329+33_1329+35delinsGCA
ENST00000703948.1:c.*1336+33_*1336+35delinsGCA ENSP00000515582.1:n.*1336+33_*1336+35delinsGCA
ENST00000703949.1:c.1719+33_1719+35delinsGCA ENSP00000515583.1:n.1719+33_1719+35delinsGCA
ENST00000703950.1:c.1719+33_1719+35delinsGCA ENSP00000515584.1:n.1719+33_1719+35delinsGCA
ENST00000703951.1:c.1265+4419_1265+4421delinsGCA ENSP00000515585.1:n.1265+4419_1265+4421delinsGCA
ENST00000703952.1:c.1265+4419_1265+4421delinsGCA ENSP00000515586.1:n.1265+4419_1265+4421delinsGCA
ENST00000703953.1:c.*982+33_*982+35delinsGCA ENSP00000515587.1:n.*982+33_*982+35delinsGCA
ENST00000703954.1:c.1599+33_1599+35delinsGCA ENSP00000515588.1:n.1599+33_1599+35delinsGCA
ENST00000703955.1:n.2269+33_2269+35delinsGCA
ENST00000703957.1:n.224+33_224+35delinsGCA
ENST00000298649.8:c.1716+33_1716+35delinsGCA ENSP00000298649.3:n.1716+33_1716+35delinsGCA
ENST00000359426.7:c.1719+33_1719+35delinsGCA MANE Select ENSP00000352398.6:n.1719+33_1719+35delinsGCA
ENST00000436817.6:c.1731+33_1731+35delinsGCA ENSP00000415949.2:n.1731+33_1731+35delinsGCA
ENST00000493591.6:c.*1607+33_*1607+35delinsGCA ENSP00000494917.1:n.*1607+33_*1607+35delinsGCA
ENST00000643399.2:c.1731+33_1731+35delinsGCA MANE Plus Clinical ENSP00000494664.1:n.1731+33_1731+35delinsGCA
ENST00000298649.7:c.1716+33_1716+35delinsGCA ENSP00000298649.3:n.1716+33_1716+35delinsGCA
ENST00000359426.6:c.1719+33_1719+35delinsGCA ENSP00000352398.6:n.1719+33_1719+35delinsGCA
ENST00000360289.6:c.1683+33_1683+35delinsGCA ENSP00000353433.2:n.1683+33_1683+35delinsGCA
ENST00000448642.6:c.1731+33_1731+35delinsGCA ENSP00000402103.3:n.1731+33_1731+35delinsGCA
ENST00000494253.1:n.1978_1980delinsGCA
NM_000188.2:c.1719+33_1719+35delinsGCA NP_000179.2:n.1719+33_1719+35delinsGCA
NM_033496.2:c.1716+33_1716+35delinsGCA NP_277031.1:n.1716+33_1716+35delinsGCA
NM_033497.2:c.1731+33_1731+35delinsGCA NP_277032.1:n.1731+33_1731+35delinsGCA
NM_033498.2:c.1731+33_1731+35delinsGCA NP_277033.1:n.1731+33_1731+35delinsGCA
NM_033500.2:c.1683+33_1683+35delinsGCA , LRG_365t1:c.1683+33_1683+35delinsGCA NP_277035.2:n.1683+33_1683+35delinsGCA
XM_005269735.2:c.1848+33_1848+35delinsGCA XP_005269792.1:n.1848+33_1848+35delinsGCA
XM_005269736.1:c.1731+33_1731+35delinsGCA XP_005269793.1:n.1731+33_1731+35delinsGCA
XM_005269737.1:c.1635+33_1635+35delinsGCA XP_005269794.1:n.1635+33_1635+35delinsGCA
XM_011539732.1:c.1683+33_1683+35delinsGCA XP_011538034.1:n.1683+33_1683+35delinsGCA
XM_011539733.1:c.1677+33_1677+35delinsGCA XP_011538035.1:n.1677+33_1677+35delinsGCA
XM_011539734.1:c.1674+33_1674+35delinsGCA XP_011538036.1:n.1674+33_1674+35delinsGCA
NM_001322364.1:c.1731+33_1731+35delinsGCA NP_001309293.1:n.1731+33_1731+35delinsGCA
NM_001322365.1:c.1824+33_1824+35delinsGCA NP_001309294.1:n.1824+33_1824+35delinsGCA
NM_001322366.1:c.1635+33_1635+35delinsGCA NP_001309295.1:n.1635+33_1635+35delinsGCA
NM_001322367.1:c.1623+33_1623+35delinsGCA NP_001309296.1:n.1623+33_1623+35delinsGCA
NM_001358263.1:c.1731+33_1731+35delinsGCA MANE Plus Clinical NP_001345192.1:n.1731+33_1731+35delinsGCA
XM_024447969.1:c.1731+33_1731+35delinsGCA XP_024303737.1:n.1731+33_1731+35delinsGCA
NM_000188.3:c.1719+33_1719+35delinsGCA MANE Select NP_000179.2:n.1719+33_1719+35delinsGCA
NM_001322364.2:c.1731+33_1731+35delinsGCA NP_001309293.1:n.1731+33_1731+35delinsGCA
NM_001322365.2:c.1824+33_1824+35delinsGCA NP_001309294.1:n.1824+33_1824+35delinsGCA
NM_033496.3:c.1716+33_1716+35delinsGCA NP_277031.1:n.1716+33_1716+35delinsGCA
NM_033497.3:c.1731+33_1731+35delinsGCA NP_277032.1:n.1731+33_1731+35delinsGCA
NM_033498.3:c.1731+33_1731+35delinsGCA NP_277033.1:n.1731+33_1731+35delinsGCA