Canonical Allele Identifier: CA2609447016

Gene: HK1

Linked Data

• gnomAD v4: 10-69382651-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382654_69382656del , CM000672.2:g.69382654_69382656del	GRCh38
NC_000010.10:g.71142410_71142412del , CM000672.1:g.71142410_71142412del	GRCh37
NC_000010.9:g.70812416_70812418del	NCBI36
NG_012077.1:g.117655_117657del , LRG_365:g.117655_117657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1433_1435del	ENSP00000515580.1:p.His478del
ENST00000703945.1:c.1349_1351del	ENSP00000515578.1:p.His450del
ENST00000703946.1:c.1265+2559_1265+2561del	ENSP00000515579.1:n.1265+2559_1265+2561del
ENST00000703947.1:c.1043_1045del	ENSP00000515581.1:p.His348del
ENST00000703948.1:c.*1050_*1052del	ENSP00000515582.1:n.*1050_*1052del
ENST00000703949.1:c.1433_1435del	ENSP00000515583.1:p.His478del
ENST00000703950.1:c.1433_1435del	ENSP00000515584.1:p.His478del
ENST00000703951.1:c.1265+2559_1265+2561del	ENSP00000515585.1:n.1265+2559_1265+2561del
ENST00000703952.1:c.1265+2559_1265+2561del	ENSP00000515586.1:n.1265+2559_1265+2561del
ENST00000703953.1:c.*696_*698del	ENSP00000515587.1:n.*696_*698del
ENST00000703954.1:c.1313_1315del	ENSP00000515588.1:p.His438del
ENST00000703955.1:n.1983_1985del
ENST00000298649.8:c.1430_1432del	ENSP00000298649.3:p.His477del
ENST00000359426.7:c.1433_1435del MANE Select	ENSP00000352398.6:p.His478del
ENST00000436817.6:c.1445_1447del	ENSP00000415949.2:p.His482del
ENST00000493591.6:c.*1321_*1323del	ENSP00000494917.1:n.*1321_*1323del
ENST00000643399.2:c.1445_1447del MANE Plus Clinical	ENSP00000494664.1:p.His482del
ENST00000298649.7:c.1430_1432del	ENSP00000298649.3:p.His477del
ENST00000359426.6:c.1433_1435del	ENSP00000352398.6:p.His478del
ENST00000360289.6:c.1397_1399del	ENSP00000353433.2:p.His466del
ENST00000448642.6:c.1445_1447del	ENSP00000402103.3:p.His482del
ENST00000494253.1:n.1659_1661del
NM_000188.2:c.1433_1435del	NP_000179.2:p.His478del
NM_033496.2:c.1430_1432del	NP_277031.1:p.His477del
NM_033497.2:c.1445_1447del	NP_277032.1:p.His482del
NM_033498.2:c.1445_1447del	NP_277033.1:p.His482del
NM_033500.2:c.1397_1399del , LRG_365t1:c.1397_1399del	NP_277035.2:p.His466del
XM_005269735.2:c.1562_1564del	XP_005269792.1:p.His521del
XM_005269736.1:c.1445_1447del	XP_005269793.1:p.His482del
XM_005269737.1:c.1349_1351del	XP_005269794.1:p.His450del
XM_011539732.1:c.1397_1399del	XP_011538034.1:p.His466del
XM_011539733.1:c.1391_1393del	XP_011538035.1:p.His464del
XM_011539734.1:c.1388_1390del	XP_011538036.1:p.His463del
NM_001322364.1:c.1445_1447del	NP_001309293.1:p.His482del
NM_001322365.1:c.1538_1540del	NP_001309294.1:p.His513del
NM_001322366.1:c.1349_1351del	NP_001309295.1:p.His450del
NM_001322367.1:c.1337_1339del	NP_001309296.1:p.His446del
NM_001358263.1:c.1445_1447del MANE Plus Clinical	NP_001345192.1:p.His482del
XM_024447969.1:c.1445_1447del	XP_024303737.1:p.His482del
NM_000188.3:c.1433_1435del MANE Select	NP_000179.2:p.His478del
NM_001322364.2:c.1445_1447del	NP_001309293.1:p.His482del
NM_001322365.2:c.1538_1540del	NP_001309294.1:p.His513del
NM_033496.3:c.1430_1432del	NP_277031.1:p.His477del
NM_033497.3:c.1445_1447del	NP_277032.1:p.His482del
NM_033498.3:c.1445_1447del	NP_277033.1:p.His482del