Canonical Allele Identifier: CA2609447180

Gene: HK1

Linked Data

• gnomAD v4: 10-69384219-CTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384220_69384223del , CM000672.2:g.69384220_69384223del	GRCh38
NC_000010.10:g.71143976_71143979del , CM000672.1:g.71143976_71143979del	GRCh37
NC_000010.9:g.70813982_70813985del	NCBI36
NG_012077.1:g.119221_119224del , LRG_365:g.119221_119224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1571-113_1571-110del	ENSP00000515580.1:n.1571-113_1571-110del
ENST00000703945.1:c.1487-113_1487-110del	ENSP00000515578.1:n.1487-113_1487-110del
ENST00000703946.1:c.1265+4125_1265+4128del	ENSP00000515579.1:n.1265+4125_1265+4128del
ENST00000703947.1:c.1181-113_1181-110del	ENSP00000515581.1:n.1181-113_1181-110del
ENST00000703948.1:c.*1188-113_*1188-110del	ENSP00000515582.1:n.*1188-113_*1188-110del
ENST00000703949.1:c.1571-113_1571-110del	ENSP00000515583.1:n.1571-113_1571-110del
ENST00000703950.1:c.1571-113_1571-110del	ENSP00000515584.1:n.1571-113_1571-110del
ENST00000703951.1:c.1265+4125_1265+4128del	ENSP00000515585.1:n.1265+4125_1265+4128del
ENST00000703952.1:c.1265+4125_1265+4128del	ENSP00000515586.1:n.1265+4125_1265+4128del
ENST00000703953.1:c.*834-113_*834-110del	ENSP00000515587.1:n.*834-113_*834-110del
ENST00000703954.1:c.1451-113_1451-110del	ENSP00000515588.1:n.1451-113_1451-110del
ENST00000703955.1:n.2121-113_2121-110del
ENST00000703957.1:n.76-113_76-110del
ENST00000298649.8:c.1568-113_1568-110del	ENSP00000298649.3:n.1568-113_1568-110del
ENST00000359426.7:c.1571-113_1571-110del MANE Select	ENSP00000352398.6:n.1571-113_1571-110del
ENST00000436817.6:c.1583-113_1583-110del	ENSP00000415949.2:n.1583-113_1583-110del
ENST00000493591.6:c.*1459-113_*1459-110del	ENSP00000494917.1:n.*1459-113_*1459-110del
ENST00000643399.2:c.1583-113_1583-110del MANE Plus Clinical	ENSP00000494664.1:n.1583-113_1583-110del
ENST00000298649.7:c.1568-113_1568-110del	ENSP00000298649.3:n.1568-113_1568-110del
ENST00000359426.6:c.1571-113_1571-110del	ENSP00000352398.6:n.1571-113_1571-110del
ENST00000360289.6:c.1535-113_1535-110del	ENSP00000353433.2:n.1535-113_1535-110del
ENST00000448642.6:c.1583-113_1583-110del	ENSP00000402103.3:n.1583-113_1583-110del
ENST00000494253.1:n.1797-113_1797-110del
NM_000188.2:c.1571-113_1571-110del	NP_000179.2:n.1571-113_1571-110del
NM_033496.2:c.1568-113_1568-110del	NP_277031.1:n.1568-113_1568-110del
NM_033497.2:c.1583-113_1583-110del	NP_277032.1:n.1583-113_1583-110del
NM_033498.2:c.1583-113_1583-110del	NP_277033.1:n.1583-113_1583-110del
NM_033500.2:c.1535-113_1535-110del , LRG_365t1:c.1535-113_1535-110del	NP_277035.2:n.1535-113_1535-110del
XM_005269735.2:c.1700-113_1700-110del	XP_005269792.1:n.1700-113_1700-110del
XM_005269736.1:c.1583-113_1583-110del	XP_005269793.1:n.1583-113_1583-110del
XM_005269737.1:c.1487-113_1487-110del	XP_005269794.1:n.1487-113_1487-110del
XM_011539732.1:c.1535-113_1535-110del	XP_011538034.1:n.1535-113_1535-110del
XM_011539733.1:c.1529-113_1529-110del	XP_011538035.1:n.1529-113_1529-110del
XM_011539734.1:c.1526-113_1526-110del	XP_011538036.1:n.1526-113_1526-110del
NM_001322364.1:c.1583-113_1583-110del	NP_001309293.1:n.1583-113_1583-110del
NM_001322365.1:c.1676-113_1676-110del	NP_001309294.1:n.1676-113_1676-110del
NM_001322366.1:c.1487-113_1487-110del	NP_001309295.1:n.1487-113_1487-110del
NM_001322367.1:c.1475-113_1475-110del	NP_001309296.1:n.1475-113_1475-110del
NM_001358263.1:c.1583-113_1583-110del MANE Plus Clinical	NP_001345192.1:n.1583-113_1583-110del
XM_024447969.1:c.1583-113_1583-110del	XP_024303737.1:n.1583-113_1583-110del
NM_000188.3:c.1571-113_1571-110del MANE Select	NP_000179.2:n.1571-113_1571-110del
NM_001322364.2:c.1583-113_1583-110del	NP_001309293.1:n.1583-113_1583-110del
NM_001322365.2:c.1676-113_1676-110del	NP_001309294.1:n.1676-113_1676-110del
NM_033496.3:c.1568-113_1568-110del	NP_277031.1:n.1568-113_1568-110del
NM_033497.3:c.1583-113_1583-110del	NP_277032.1:n.1583-113_1583-110del
NM_033498.3:c.1583-113_1583-110del	NP_277033.1:n.1583-113_1583-110del