Canonical Allele Identifier: CA593842201

Gene: HK1

Linked Data

• dbSNP Id: rs1169738396
• gnomAD v2: 10-71142121-ACCCTGTCTC-A
• MyVariant Identifiers: chr10:g.71142122_71142130del (hg19) ; chr10:g.69382366_69382374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382366_69382374del , CM000672.2:g.69382366_69382374del	GRCh38
NC_000010.10:g.71142122_71142130del , CM000672.1:g.71142122_71142130del	GRCh37
NC_000010.9:g.70812128_70812136del	NCBI36
NG_012077.1:g.117367_117375del , LRG_365:g.117367_117375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1266-121_1266-113del	ENSP00000515580.1:n.1266-121_1266-113del
ENST00000703945.1:c.1182-121_1182-113del	ENSP00000515578.1:n.1182-121_1182-113del
ENST00000703946.1:c.1265+2271_1265+2279del	ENSP00000515579.1:n.1265+2271_1265+2279del
ENST00000703947.1:c.876-121_876-113del	ENSP00000515581.1:n.876-121_876-113del
ENST00000703948.1:c.*883-121_*883-113del	ENSP00000515582.1:n.*883-121_*883-113del
ENST00000703949.1:c.1266-121_1266-113del	ENSP00000515583.1:n.1266-121_1266-113del
ENST00000703950.1:c.1266-121_1266-113del	ENSP00000515584.1:n.1266-121_1266-113del
ENST00000703951.1:c.1265+2271_1265+2279del	ENSP00000515585.1:n.1265+2271_1265+2279del
ENST00000703952.1:c.1265+2271_1265+2279del	ENSP00000515586.1:n.1265+2271_1265+2279del
ENST00000703953.1:c.*529-121_*529-113del	ENSP00000515587.1:n.*529-121_*529-113del
ENST00000703954.1:c.1146-121_1146-113del	ENSP00000515588.1:n.1146-121_1146-113del
ENST00000703955.1:n.1816-121_1816-113del
ENST00000298649.8:c.1263-121_1263-113del	ENSP00000298649.3:n.1263-121_1263-113del
ENST00000359426.7:c.1266-121_1266-113del MANE Select	ENSP00000352398.6:n.1266-121_1266-113del
ENST00000436817.6:c.1278-121_1278-113del	ENSP00000415949.2:n.1278-121_1278-113del
ENST00000493591.6:c.*1154-121_*1154-113del	ENSP00000494917.1:n.*1154-121_*1154-113del
ENST00000643399.2:c.1278-121_1278-113del MANE Plus Clinical	ENSP00000494664.1:n.1278-121_1278-113del
ENST00000298649.7:c.1263-121_1263-113del	ENSP00000298649.3:n.1263-121_1263-113del
ENST00000359426.6:c.1266-121_1266-113del	ENSP00000352398.6:n.1266-121_1266-113del
ENST00000360289.6:c.1230-121_1230-113del	ENSP00000353433.2:n.1230-121_1230-113del
ENST00000448642.6:c.1278-121_1278-113del	ENSP00000402103.3:n.1278-121_1278-113del
ENST00000494253.1:n.1492-121_1492-113del
NM_000188.2:c.1266-121_1266-113del	NP_000179.2:n.1266-121_1266-113del
NM_033496.2:c.1263-121_1263-113del	NP_277031.1:n.1263-121_1263-113del
NM_033497.2:c.1278-121_1278-113del	NP_277032.1:n.1278-121_1278-113del
NM_033498.2:c.1278-121_1278-113del	NP_277033.1:n.1278-121_1278-113del
NM_033500.2:c.1230-121_1230-113del , LRG_365t1:c.1230-121_1230-113del	NP_277035.2:n.1230-121_1230-113del
XM_005269735.2:c.1395-121_1395-113del	XP_005269792.1:n.1395-121_1395-113del
XM_005269736.1:c.1278-121_1278-113del	XP_005269793.1:n.1278-121_1278-113del
XM_005269737.1:c.1182-121_1182-113del	XP_005269794.1:n.1182-121_1182-113del
XM_011539732.1:c.1230-121_1230-113del	XP_011538034.1:n.1230-121_1230-113del
XM_011539733.1:c.1224-121_1224-113del	XP_011538035.1:n.1224-121_1224-113del
XM_011539734.1:c.1221-121_1221-113del	XP_011538036.1:n.1221-121_1221-113del
NM_001322364.1:c.1278-121_1278-113del	NP_001309293.1:n.1278-121_1278-113del
NM_001322365.1:c.1371-121_1371-113del	NP_001309294.1:n.1371-121_1371-113del
NM_001322366.1:c.1182-121_1182-113del	NP_001309295.1:n.1182-121_1182-113del
NM_001322367.1:c.1170-121_1170-113del	NP_001309296.1:n.1170-121_1170-113del
NM_001358263.1:c.1278-121_1278-113del MANE Plus Clinical	NP_001345192.1:n.1278-121_1278-113del
XM_024447969.1:c.1278-121_1278-113del	XP_024303737.1:n.1278-121_1278-113del
NM_000188.3:c.1266-121_1266-113del MANE Select	NP_000179.2:n.1266-121_1266-113del
NM_001322364.2:c.1278-121_1278-113del	NP_001309293.1:n.1278-121_1278-113del
NM_001322365.2:c.1371-121_1371-113del	NP_001309294.1:n.1371-121_1371-113del
NM_033496.3:c.1263-121_1263-113del	NP_277031.1:n.1263-121_1263-113del
NM_033497.3:c.1278-121_1278-113del	NP_277032.1:n.1278-121_1278-113del
NM_033498.3:c.1278-121_1278-113del	NP_277033.1:n.1278-121_1278-113del