Canonical Allele Identifier: CA2695199503

Gene: HK1

Linked Data

• ClinVar Variation Id: 2640550
• ClinVar RCV Id: RCV003417464

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382551_69382553del , CM000672.2:g.69382551_69382553del	GRCh38
NC_000010.10:g.71142307_71142309del , CM000672.1:g.71142307_71142309del	GRCh37
NC_000010.9:g.70812313_70812315del	NCBI36
NG_012077.1:g.117552_117554del , LRG_365:g.117552_117554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1330_1332del	ENSP00000515580.1:p.Leu444del
ENST00000703945.1:c.1246_1248del	ENSP00000515578.1:p.Leu416del
ENST00000703946.1:c.1265+2456_1265+2458del	ENSP00000515579.1:n.1265+2456_1265+2458del
ENST00000703947.1:c.940_942del	ENSP00000515581.1:p.Leu314del
ENST00000703948.1:c.*947_*949del	ENSP00000515582.1:n.*947_*949del
ENST00000703949.1:c.1330_1332del	ENSP00000515583.1:p.Leu444del
ENST00000703950.1:c.1330_1332del	ENSP00000515584.1:p.Leu444del
ENST00000703951.1:c.1265+2456_1265+2458del	ENSP00000515585.1:n.1265+2456_1265+2458del
ENST00000703952.1:c.1265+2456_1265+2458del	ENSP00000515586.1:n.1265+2456_1265+2458del
ENST00000703953.1:c.*593_*595del	ENSP00000515587.1:n.*593_*595del
ENST00000703954.1:c.1210_1212del	ENSP00000515588.1:p.Leu404del
ENST00000703955.1:n.1880_1882del
ENST00000298649.8:c.1327_1329del	ENSP00000298649.3:p.Leu443del
ENST00000359426.7:c.1330_1332del MANE Select	ENSP00000352398.6:p.Leu444del
ENST00000436817.6:c.1342_1344del	ENSP00000415949.2:p.Leu448del
ENST00000493591.6:c.*1218_*1220del	ENSP00000494917.1:n.*1218_*1220del
ENST00000643399.2:c.1342_1344del MANE Plus Clinical	ENSP00000494664.1:p.Leu448del
ENST00000298649.7:c.1327_1329del	ENSP00000298649.3:p.Leu443del
ENST00000359426.6:c.1330_1332del	ENSP00000352398.6:p.Leu444del
ENST00000360289.6:c.1294_1296del	ENSP00000353433.2:p.Leu432del
ENST00000448642.6:c.1342_1344del	ENSP00000402103.3:p.Leu448del
ENST00000494253.1:n.1556_1558del
NM_000188.2:c.1330_1332del	NP_000179.2:p.Leu444del
NM_033496.2:c.1327_1329del	NP_277031.1:p.Leu443del
NM_033497.2:c.1342_1344del	NP_277032.1:p.Leu448del
NM_033498.2:c.1342_1344del	NP_277033.1:p.Leu448del
NM_033500.2:c.1294_1296del , LRG_365t1:c.1294_1296del	NP_277035.2:p.Leu432del
XM_005269735.2:c.1459_1461del	XP_005269792.1:p.Leu487del
XM_005269736.1:c.1342_1344del	XP_005269793.1:p.Leu448del
XM_005269737.1:c.1246_1248del	XP_005269794.1:p.Leu416del
XM_011539732.1:c.1294_1296del	XP_011538034.1:p.Leu432del
XM_011539733.1:c.1288_1290del	XP_011538035.1:p.Leu430del
XM_011539734.1:c.1285_1287del	XP_011538036.1:p.Leu429del
NM_001322364.1:c.1342_1344del	NP_001309293.1:p.Leu448del
NM_001322365.1:c.1435_1437del	NP_001309294.1:p.Leu479del
NM_001322366.1:c.1246_1248del	NP_001309295.1:p.Leu416del
NM_001322367.1:c.1234_1236del	NP_001309296.1:p.Leu412del
NM_001358263.1:c.1342_1344del MANE Plus Clinical	NP_001345192.1:p.Leu448del
XM_024447969.1:c.1342_1344del	XP_024303737.1:p.Leu448del
NM_000188.3:c.1330_1332del MANE Select	NP_000179.2:p.Leu444del
NM_001322364.2:c.1342_1344del	NP_001309293.1:p.Leu448del
NM_001322365.2:c.1435_1437del	NP_001309294.1:p.Leu479del
NM_033496.3:c.1327_1329del	NP_277031.1:p.Leu443del
NM_033497.3:c.1342_1344del	NP_277032.1:p.Leu448del
NM_033498.3:c.1342_1344del	NP_277033.1:p.Leu448del