Canonical Allele Identifier: CA2788411563
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382389_69382393del , CM000672.2:g.69382389_69382393del GRCh38
NC_000010.10:g.71142145_71142149del , CM000672.1:g.71142145_71142149del GRCh37
NC_000010.9:g.70812151_70812155del NCBI36
NG_012077.1:g.117390_117394del , LRG_365:g.117390_117394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1266-98_1266-94del ENSP00000515580.1:n.1266-98_1266-94del
ENST00000703945.1:c.1182-98_1182-94del ENSP00000515578.1:n.1182-98_1182-94del
ENST00000703946.1:c.1265+2294_1265+2298del ENSP00000515579.1:n.1265+2294_1265+2298del
ENST00000703947.1:c.876-98_876-94del ENSP00000515581.1:n.876-98_876-94del
ENST00000703948.1:c.*883-98_*883-94del ENSP00000515582.1:n.*883-98_*883-94del
ENST00000703949.1:c.1266-98_1266-94del ENSP00000515583.1:n.1266-98_1266-94del
ENST00000703950.1:c.1266-98_1266-94del ENSP00000515584.1:n.1266-98_1266-94del
ENST00000703951.1:c.1265+2294_1265+2298del ENSP00000515585.1:n.1265+2294_1265+2298del
ENST00000703952.1:c.1265+2294_1265+2298del ENSP00000515586.1:n.1265+2294_1265+2298del
ENST00000703953.1:c.*529-98_*529-94del ENSP00000515587.1:n.*529-98_*529-94del
ENST00000703954.1:c.1146-98_1146-94del ENSP00000515588.1:n.1146-98_1146-94del
ENST00000703955.1:n.1816-98_1816-94del
ENST00000298649.8:c.1263-98_1263-94del ENSP00000298649.3:n.1263-98_1263-94del
ENST00000359426.7:c.1266-98_1266-94del MANE Select ENSP00000352398.6:n.1266-98_1266-94del
ENST00000436817.6:c.1278-98_1278-94del ENSP00000415949.2:n.1278-98_1278-94del
ENST00000493591.6:c.*1154-98_*1154-94del ENSP00000494917.1:n.*1154-98_*1154-94del
ENST00000643399.2:c.1278-98_1278-94del MANE Plus Clinical ENSP00000494664.1:n.1278-98_1278-94del
ENST00000298649.7:c.1263-98_1263-94del ENSP00000298649.3:n.1263-98_1263-94del
ENST00000359426.6:c.1266-98_1266-94del ENSP00000352398.6:n.1266-98_1266-94del
ENST00000360289.6:c.1230-98_1230-94del ENSP00000353433.2:n.1230-98_1230-94del
ENST00000448642.6:c.1278-98_1278-94del ENSP00000402103.3:n.1278-98_1278-94del
ENST00000494253.1:n.1492-98_1492-94del
NM_000188.2:c.1266-98_1266-94del NP_000179.2:n.1266-98_1266-94del
NM_033496.2:c.1263-98_1263-94del NP_277031.1:n.1263-98_1263-94del
NM_033497.2:c.1278-98_1278-94del NP_277032.1:n.1278-98_1278-94del
NM_033498.2:c.1278-98_1278-94del NP_277033.1:n.1278-98_1278-94del
NM_033500.2:c.1230-98_1230-94del , LRG_365t1:c.1230-98_1230-94del NP_277035.2:n.1230-98_1230-94del
XM_005269735.2:c.1395-98_1395-94del XP_005269792.1:n.1395-98_1395-94del
XM_005269736.1:c.1278-98_1278-94del XP_005269793.1:n.1278-98_1278-94del
XM_005269737.1:c.1182-98_1182-94del XP_005269794.1:n.1182-98_1182-94del
XM_011539732.1:c.1230-98_1230-94del XP_011538034.1:n.1230-98_1230-94del
XM_011539733.1:c.1224-98_1224-94del XP_011538035.1:n.1224-98_1224-94del
XM_011539734.1:c.1221-98_1221-94del XP_011538036.1:n.1221-98_1221-94del
NM_001322364.1:c.1278-98_1278-94del NP_001309293.1:n.1278-98_1278-94del
NM_001322365.1:c.1371-98_1371-94del NP_001309294.1:n.1371-98_1371-94del
NM_001322366.1:c.1182-98_1182-94del NP_001309295.1:n.1182-98_1182-94del
NM_001322367.1:c.1170-98_1170-94del NP_001309296.1:n.1170-98_1170-94del
NM_001358263.1:c.1278-98_1278-94del MANE Plus Clinical NP_001345192.1:n.1278-98_1278-94del
XM_024447969.1:c.1278-98_1278-94del XP_024303737.1:n.1278-98_1278-94del
NM_000188.3:c.1266-98_1266-94del MANE Select NP_000179.2:n.1266-98_1266-94del
NM_001322364.2:c.1278-98_1278-94del NP_001309293.1:n.1278-98_1278-94del
NM_001322365.2:c.1371-98_1371-94del NP_001309294.1:n.1371-98_1371-94del
NM_033496.3:c.1263-98_1263-94del NP_277031.1:n.1263-98_1263-94del
NM_033497.3:c.1278-98_1278-94del NP_277032.1:n.1278-98_1278-94del
NM_033498.3:c.1278-98_1278-94del NP_277033.1:n.1278-98_1278-94del