Canonical Allele Identifier: CA209213552
Gene: HK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1896372
ClinVar RCV Id: RCV002575153
dbSNP Id: rs767786635

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384500del , CM000672.2:g.69384500del GRCh38
NC_000010.10:g.71144256del , CM000672.1:g.71144256del GRCh37
NC_000010.9:g.70814262del NCBI36
NG_012077.1:g.119501del , LRG_365:g.119501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1719+19del ENSP00000515580.1:n.1719+19del
ENST00000703945.1:c.1635+19del ENSP00000515578.1:n.1635+19del
ENST00000703946.1:c.1265+4405del ENSP00000515579.1:n.1265+4405del
ENST00000703947.1:c.1329+19del ENSP00000515581.1:n.1329+19del
ENST00000703948.1:c.*1336+19del ENSP00000515582.1:n.*1336+19del
ENST00000703949.1:c.1719+19del ENSP00000515583.1:n.1719+19del
ENST00000703950.1:c.1719+19del ENSP00000515584.1:n.1719+19del
ENST00000703951.1:c.1265+4405del ENSP00000515585.1:n.1265+4405del
ENST00000703952.1:c.1265+4405del ENSP00000515586.1:n.1265+4405del
ENST00000703953.1:c.*982+19del ENSP00000515587.1:n.*982+19del
ENST00000703954.1:c.1599+19del ENSP00000515588.1:n.1599+19del
ENST00000703955.1:n.2269+19del
ENST00000703957.1:n.224+19del
ENST00000298649.8:c.1716+19del ENSP00000298649.3:n.1716+19del
ENST00000359426.7:c.1719+19del MANE Select ENSP00000352398.6:n.1719+19del
ENST00000436817.6:c.1731+19del ENSP00000415949.2:n.1731+19del
ENST00000493591.6:c.*1607+19del ENSP00000494917.1:n.*1607+19del
ENST00000643399.2:c.1731+19del MANE Plus Clinical ENSP00000494664.1:n.1731+19del
ENST00000298649.7:c.1716+19del ENSP00000298649.3:n.1716+19del
ENST00000359426.6:c.1719+19del ENSP00000352398.6:n.1719+19del
ENST00000360289.6:c.1683+19del ENSP00000353433.2:n.1683+19del
ENST00000448642.6:c.1731+19del ENSP00000402103.3:n.1731+19del
ENST00000494253.1:n.1964del
NM_000188.2:c.1719+19del NP_000179.2:n.1719+19del
NM_033496.2:c.1716+19del NP_277031.1:n.1716+19del
NM_033497.2:c.1731+19del NP_277032.1:n.1731+19del
NM_033498.2:c.1731+19del NP_277033.1:n.1731+19del
NM_033500.2:c.1683+19del , LRG_365t1:c.1683+19del NP_277035.2:n.1683+19del
XM_005269735.2:c.1848+19del XP_005269792.1:n.1848+19del
XM_005269736.1:c.1731+19del XP_005269793.1:n.1731+19del
XM_005269737.1:c.1635+19del XP_005269794.1:n.1635+19del
XM_011539732.1:c.1683+19del XP_011538034.1:n.1683+19del
XM_011539733.1:c.1677+19del XP_011538035.1:n.1677+19del
XM_011539734.1:c.1674+19del XP_011538036.1:n.1674+19del
NM_001322364.1:c.1731+19del NP_001309293.1:n.1731+19del
NM_001322365.1:c.1824+19del NP_001309294.1:n.1824+19del
NM_001322366.1:c.1635+19del NP_001309295.1:n.1635+19del
NM_001322367.1:c.1623+19del NP_001309296.1:n.1623+19del
NM_001358263.1:c.1731+19del MANE Plus Clinical NP_001345192.1:n.1731+19del
XM_024447969.1:c.1731+19del XP_024303737.1:n.1731+19del
NM_000188.3:c.1719+19del MANE Select NP_000179.2:n.1719+19del
NM_001322364.2:c.1731+19del NP_001309293.1:n.1731+19del
NM_001322365.2:c.1824+19del NP_001309294.1:n.1824+19del
NM_033496.3:c.1716+19del NP_277031.1:n.1716+19del
NM_033497.3:c.1731+19del NP_277032.1:n.1731+19del
NM_033498.3:c.1731+19del NP_277033.1:n.1731+19del