Canonical Allele Identifier: CA1917772212
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382675_69382676delinsTG , CM000672.2:g.69382675_69382676delinsTG GRCh38
NC_000010.10:g.71142431_71142432delinsTG , CM000672.1:g.71142431_71142432delinsTG GRCh37
NC_000010.9:g.70812437_70812438delinsTG NCBI36
NG_012077.1:g.117676_117677delinsTG , LRG_365:g.117676_117677delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1454_1455delinsTG ENSP00000515580.1:p.Leu485=
ENST00000703945.1:c.1370_1371delinsTG ENSP00000515578.1:p.Leu457=
ENST00000703946.1:c.1265+2580_1265+2581delinsTG ENSP00000515579.1:n.1265+2580_1265+2581delinsTG
ENST00000703947.1:c.1064_1065delinsTG ENSP00000515581.1:p.Leu355=
ENST00000703948.1:c.*1071_*1072delinsTG ENSP00000515582.1:n.*1071_*1072delinsTG
ENST00000703949.1:c.1454_1455delinsTG ENSP00000515583.1:p.Leu485=
ENST00000703950.1:c.1454_1455delinsTG ENSP00000515584.1:p.Leu485=
ENST00000703951.1:c.1265+2580_1265+2581delinsTG ENSP00000515585.1:n.1265+2580_1265+2581delinsTG
ENST00000703952.1:c.1265+2580_1265+2581delinsTG ENSP00000515586.1:n.1265+2580_1265+2581delinsTG
ENST00000703953.1:c.*717_*718delinsTG ENSP00000515587.1:n.*717_*718delinsTG
ENST00000703954.1:c.1334_1335delinsTG ENSP00000515588.1:p.Leu445=
ENST00000703955.1:n.2004_2005delinsTG
ENST00000298649.8:c.1451_1452delinsTG ENSP00000298649.3:p.Leu484=
ENST00000359426.7:c.1454_1455delinsTG MANE Select ENSP00000352398.6:p.Leu485=
ENST00000436817.6:c.1466_1467delinsTG ENSP00000415949.2:p.Leu489=
ENST00000493591.6:c.*1342_*1343delinsTG ENSP00000494917.1:n.*1342_*1343delinsTG
ENST00000643399.2:c.1466_1467delinsTG MANE Plus Clinical ENSP00000494664.1:p.Leu489=
ENST00000298649.7:c.1451_1452delinsTG ENSP00000298649.3:p.Leu484=
ENST00000359426.6:c.1454_1455delinsTG ENSP00000352398.6:p.Leu485=
ENST00000360289.6:c.1418_1419delinsTG ENSP00000353433.2:p.Leu473=
ENST00000448642.6:c.1466_1467delinsTG ENSP00000402103.3:p.Leu489=
ENST00000494253.1:n.1680_1681delinsTG
NM_000188.2:c.1454_1455delinsTG NP_000179.2:p.Leu485=
NM_033496.2:c.1451_1452delinsTG NP_277031.1:p.Leu484=
NM_033497.2:c.1466_1467delinsTG NP_277032.1:p.Leu489=
NM_033498.2:c.1466_1467delinsTG NP_277033.1:p.Leu489=
NM_033500.2:c.1418_1419delinsTG , LRG_365t1:c.1418_1419delinsTG NP_277035.2:p.Leu473=
XM_005269735.2:c.1583_1584delinsTG XP_005269792.1:p.Leu528=
XM_005269736.1:c.1466_1467delinsTG XP_005269793.1:p.Leu489=
XM_005269737.1:c.1370_1371delinsTG XP_005269794.1:p.Leu457=
XM_011539732.1:c.1418_1419delinsTG XP_011538034.1:p.Leu473=
XM_011539733.1:c.1412_1413delinsTG XP_011538035.1:p.Leu471=
XM_011539734.1:c.1409_1410delinsTG XP_011538036.1:p.Leu470=
NM_001322364.1:c.1466_1467delinsTG NP_001309293.1:p.Leu489=
NM_001322365.1:c.1559_1560delinsTG NP_001309294.1:p.Leu520=
NM_001322366.1:c.1370_1371delinsTG NP_001309295.1:p.Leu457=
NM_001322367.1:c.1358_1359delinsTG NP_001309296.1:p.Leu453=
NM_001358263.1:c.1466_1467delinsTG MANE Plus Clinical NP_001345192.1:p.Leu489=
XM_024447969.1:c.1466_1467delinsTG XP_024303737.1:p.Leu489=
NM_000188.3:c.1454_1455delinsTG MANE Select NP_000179.2:p.Leu485=
NM_001322364.2:c.1466_1467delinsTG NP_001309293.1:p.Leu489=
NM_001322365.2:c.1559_1560delinsTG NP_001309294.1:p.Leu520=
NM_033496.3:c.1451_1452delinsTG NP_277031.1:p.Leu484=
NM_033497.3:c.1466_1467delinsTG NP_277032.1:p.Leu489=
NM_033498.3:c.1466_1467delinsTG NP_277033.1:p.Leu489=