Canonical Allele Identifier: CA918700254

Gene: HK1

Linked Data

• dbSNP Id: rs1564561808

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384476del , CM000672.2:g.69384476del	GRCh38
NC_000010.10:g.71144232del , CM000672.1:g.71144232del	GRCh37
NC_000010.9:g.70814238del	NCBI36
NG_012077.1:g.119477del , LRG_365:g.119477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1714del	ENSP00000515580.1:p.Glu572LysfsTer?
ENST00000703945.1:c.1630del	ENSP00000515578.1:p.Glu544LysfsTer?
ENST00000703946.1:c.1265+4381del	ENSP00000515579.1:n.1265+4381del
ENST00000703947.1:c.1324del	ENSP00000515581.1:p.Glu442LysfsTer?
ENST00000703948.1:c.*1331del	ENSP00000515582.1:n.*1331del
ENST00000703949.1:c.1714del	ENSP00000515583.1:p.Glu572LysfsTer?
ENST00000703950.1:c.1714del	ENSP00000515584.1:p.Glu572LysfsTer?
ENST00000703951.1:c.1265+4381del	ENSP00000515585.1:n.1265+4381del
ENST00000703952.1:c.1265+4381del	ENSP00000515586.1:n.1265+4381del
ENST00000703953.1:c.*977del	ENSP00000515587.1:n.*977del
ENST00000703954.1:c.1594del	ENSP00000515588.1:p.Glu532LysfsTer?
ENST00000703955.1:n.2264del
ENST00000703957.1:n.219del
ENST00000298649.8:c.1711del	ENSP00000298649.3:p.Glu571LysfsTer?
ENST00000359426.7:c.1714del MANE Select	ENSP00000352398.6:p.Glu572LysfsTer?
ENST00000436817.6:c.1726del	ENSP00000415949.2:p.Glu576LysfsTer?
ENST00000493591.6:c.*1602del	ENSP00000494917.1:n.*1602del
ENST00000643399.2:c.1726del MANE Plus Clinical	ENSP00000494664.1:p.Glu576LysfsTer?
ENST00000298649.7:c.1711del	ENSP00000298649.3:p.Glu571LysfsTer?
ENST00000359426.6:c.1714del	ENSP00000352398.6:p.Glu572LysfsTer?
ENST00000360289.6:c.1678del	ENSP00000353433.2:p.Glu560LysfsTer?
ENST00000448642.6:c.1726del	ENSP00000402103.3:p.Glu576LysfsTer?
ENST00000494253.1:n.1940del
NM_000188.2:c.1714del	NP_000179.2:p.Glu572LysfsTer?
NM_033496.2:c.1711del	NP_277031.1:p.Glu571LysfsTer?
NM_033497.2:c.1726del	NP_277032.1:p.Glu576LysfsTer?
NM_033498.2:c.1726del	NP_277033.1:p.Glu576LysfsTer?
NM_033500.2:c.1678del , LRG_365t1:c.1678del	NP_277035.2:p.Glu560LysfsTer?
XM_005269735.2:c.1843del	XP_005269792.1:p.Glu615LysfsTer?
XM_005269736.1:c.1726del	XP_005269793.1:p.Glu576LysfsTer?
XM_005269737.1:c.1630del	XP_005269794.1:p.Glu544LysfsTer?
XM_011539732.1:c.1678del	XP_011538034.1:p.Glu560LysfsTer?
XM_011539733.1:c.1672del	XP_011538035.1:p.Glu558LysfsTer?
XM_011539734.1:c.1669del	XP_011538036.1:p.Glu557LysfsTer?
NM_001322364.1:c.1726del	NP_001309293.1:p.Glu576LysfsTer?
NM_001322365.1:c.1819del	NP_001309294.1:p.Glu607LysfsTer?
NM_001322366.1:c.1630del	NP_001309295.1:p.Glu544LysfsTer?
NM_001322367.1:c.1618del	NP_001309296.1:p.Glu540LysfsTer?
NM_001358263.1:c.1726del MANE Plus Clinical	NP_001345192.1:p.Glu576LysfsTer?
XM_024447969.1:c.1726del	XP_024303737.1:p.Glu576LysfsTer?
NM_000188.3:c.1714del MANE Select	NP_000179.2:p.Glu572LysfsTer?
NM_001322364.2:c.1726del	NP_001309293.1:p.Glu576LysfsTer?
NM_001322365.2:c.1819del	NP_001309294.1:p.Glu607LysfsTer?
NM_033496.3:c.1711del	NP_277031.1:p.Glu571LysfsTer?
NM_033497.3:c.1726del	NP_277032.1:p.Glu576LysfsTer?
NM_033498.3:c.1726del	NP_277033.1:p.Glu576LysfsTer?