Canonical Allele Identifier: CA1917771617
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382113_69382140delinsGGCACAGTGGCCCATGCCTGTAATCCCA , CM000672.2:g.69382113_69382140delinsGGCACAGTGGCCCATGCCTGTAATCCCA GRCh38
NC_000010.10:g.71141869_71141896delinsGGCACAGTGGCCCATGCCTGTAATCCCA , CM000672.1:g.71141869_71141896delinsGGCACAGTGGCCCATGCCTGTAATCCCA GRCh37
NC_000010.9:g.70811875_70811902delinsGGCACAGTGGCCCATGCCTGTAATCCCA NCBI36
NG_012077.1:g.117114_117141delinsGGCACAGTGGCCCATGCCTGTAATCCCA , LRG_365:g.117114_117141delinsGGCACAGTGGCCCATGCCTGTAATCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515580.1:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCC...
ENST00000703945.1:c.1182-374_1182-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515578.1:n.1182-374_1182-347delinsGGCACAGTGGCCCATGCC...
ENST00000703946.1:c.1265+2018_1265+2045delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515579.1:n.1265+2018_1265+2045delinsGGCACAGTGGCCCATG...
ENST00000703947.1:c.876-374_876-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515581.1:n.876-374_876-347delinsGGCACAGTGGCCCATGCCTG...
ENST00000703948.1:c.*883-374_*883-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515582.1:n.*883-374_*883-347delinsGGCACAGTGGCCCATGCC...
ENST00000703949.1:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515583.1:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCC...
ENST00000703950.1:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515584.1:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCC...
ENST00000703951.1:c.1265+2018_1265+2045delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515585.1:n.1265+2018_1265+2045delinsGGCACAGTGGCCCATG...
ENST00000703952.1:c.1265+2018_1265+2045delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515586.1:n.1265+2018_1265+2045delinsGGCACAGTGGCCCATG...
ENST00000703953.1:c.*529-374_*529-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515587.1:n.*529-374_*529-347delinsGGCACAGTGGCCCATGCC...
ENST00000703954.1:c.1146-374_1146-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000515588.1:n.1146-374_1146-347delinsGGCACAGTGGCCCATGCC...
ENST00000703955.1:n.1816-374_1816-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA
ENST00000298649.8:c.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000298649.3:n.1263-374_1263-347delinsGGCACAGTGGCCCATGCC...
ENST00000359426.7:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA MANE Select ENSP00000352398.6:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCC...
ENST00000436817.6:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000415949.2:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCC...
ENST00000493591.6:c.*1154-374_*1154-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000494917.1:n.*1154-374_*1154-347delinsGGCACAGTGGCCCATG...
ENST00000643399.2:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA MANE Plus Clinical ENSP00000494664.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCC...
ENST00000298649.7:c.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000298649.3:n.1263-374_1263-347delinsGGCACAGTGGCCCATGCC...
ENST00000359426.6:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000352398.6:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCC...
ENST00000360289.6:c.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000353433.2:n.1230-374_1230-347delinsGGCACAGTGGCCCATGCC...
ENST00000448642.6:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA ENSP00000402103.3:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCC...
ENST00000494253.1:n.1492-374_1492-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA
NM_000188.2:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_000179.2:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033496.2:c.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277031.1:n.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033497.2:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277032.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033498.2:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277033.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033500.2:c.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA , LRG_365t1:c.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277035.2:n.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGTAAT...
XM_005269735.2:c.1395-374_1395-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_005269792.1:n.1395-374_1395-347delinsGGCACAGTGGCCCATGCCTGT...
XM_005269736.1:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_005269793.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGT...
XM_005269737.1:c.1182-374_1182-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_005269794.1:n.1182-374_1182-347delinsGGCACAGTGGCCCATGCCTGT...
XM_011539732.1:c.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_011538034.1:n.1230-374_1230-347delinsGGCACAGTGGCCCATGCCTGT...
XM_011539733.1:c.1224-374_1224-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_011538035.1:n.1224-374_1224-347delinsGGCACAGTGGCCCATGCCTGT...
XM_011539734.1:c.1221-374_1221-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_011538036.1:n.1221-374_1221-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001322364.1:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309293.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001322365.1:c.1371-374_1371-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309294.1:n.1371-374_1371-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001322366.1:c.1182-374_1182-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309295.1:n.1182-374_1182-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001322367.1:c.1170-374_1170-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309296.1:n.1170-374_1170-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001358263.1:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA MANE Plus Clinical NP_001345192.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGT...
XM_024447969.1:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA XP_024303737.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGT...
NM_000188.3:c.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA MANE Select NP_000179.2:n.1266-374_1266-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_001322364.2:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309293.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGT...
NM_001322365.2:c.1371-374_1371-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_001309294.1:n.1371-374_1371-347delinsGGCACAGTGGCCCATGCCTGT...
NM_033496.3:c.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277031.1:n.1263-374_1263-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033497.3:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277032.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAAT...
NM_033498.3:c.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAATCCCA NP_277033.1:n.1278-374_1278-347delinsGGCACAGTGGCCCATGCCTGTAAT...