Canonical Allele Identifier: CA2838748259
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69382594dup , CM000672.2:g.69382594dup GRCh38
NC_000010.10:g.71142350dup , CM000672.1:g.71142350dup GRCh37
NC_000010.9:g.70812356dup NCBI36
NG_012077.1:g.117595dup , LRG_365:g.117595dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1373dup ENSP00000515580.1:p.Val459GlyfsTer?
ENST00000703945.1:c.1289dup ENSP00000515578.1:p.Val431GlyfsTer?
ENST00000703946.1:c.1265+2499dup ENSP00000515579.1:n.1265+2499dup
ENST00000703947.1:c.983dup ENSP00000515581.1:p.Val329GlyfsTer?
ENST00000703948.1:c.*990dup ENSP00000515582.1:n.*990dup
ENST00000703949.1:c.1373dup ENSP00000515583.1:p.Val459GlyfsTer?
ENST00000703950.1:c.1373dup ENSP00000515584.1:p.Val459GlyfsTer?
ENST00000703951.1:c.1265+2499dup ENSP00000515585.1:n.1265+2499dup
ENST00000703952.1:c.1265+2499dup ENSP00000515586.1:n.1265+2499dup
ENST00000703953.1:c.*636dup ENSP00000515587.1:n.*636dup
ENST00000703954.1:c.1253dup ENSP00000515588.1:p.Val419GlyfsTer?
ENST00000703955.1:n.1923dup
ENST00000298649.8:c.1370dup ENSP00000298649.3:p.Val458GlyfsTer?
ENST00000359426.7:c.1373dup MANE Select ENSP00000352398.6:p.Val459GlyfsTer?
ENST00000436817.6:c.1385dup ENSP00000415949.2:p.Val463GlyfsTer?
ENST00000493591.6:c.*1261dup ENSP00000494917.1:n.*1261dup
ENST00000643399.2:c.1385dup MANE Plus Clinical ENSP00000494664.1:p.Val463GlyfsTer?
ENST00000298649.7:c.1370dup ENSP00000298649.3:p.Val458GlyfsTer?
ENST00000359426.6:c.1373dup ENSP00000352398.6:p.Val459GlyfsTer?
ENST00000360289.6:c.1337dup ENSP00000353433.2:p.Val447GlyfsTer?
ENST00000448642.6:c.1385dup ENSP00000402103.3:p.Val463GlyfsTer?
ENST00000494253.1:n.1599dup
NM_000188.2:c.1373dup NP_000179.2:p.Val459GlyfsTer?
NM_033496.2:c.1370dup NP_277031.1:p.Val458GlyfsTer?
NM_033497.2:c.1385dup NP_277032.1:p.Val463GlyfsTer?
NM_033498.2:c.1385dup NP_277033.1:p.Val463GlyfsTer?
NM_033500.2:c.1337dup , LRG_365t1:c.1337dup NP_277035.2:p.Val447GlyfsTer?
XM_005269735.2:c.1502dup XP_005269792.1:p.Val502GlyfsTer?
XM_005269736.1:c.1385dup XP_005269793.1:p.Val463GlyfsTer?
XM_005269737.1:c.1289dup XP_005269794.1:p.Val431GlyfsTer?
XM_011539732.1:c.1337dup XP_011538034.1:p.Val447GlyfsTer?
XM_011539733.1:c.1331dup XP_011538035.1:p.Val445GlyfsTer?
XM_011539734.1:c.1328dup XP_011538036.1:p.Val444GlyfsTer?
NM_001322364.1:c.1385dup NP_001309293.1:p.Val463GlyfsTer?
NM_001322365.1:c.1478dup NP_001309294.1:p.Val494GlyfsTer?
NM_001322366.1:c.1289dup NP_001309295.1:p.Val431GlyfsTer?
NM_001322367.1:c.1277dup NP_001309296.1:p.Val427GlyfsTer?
NM_001358263.1:c.1385dup MANE Plus Clinical NP_001345192.1:p.Val463GlyfsTer?
XM_024447969.1:c.1385dup XP_024303737.1:p.Val463GlyfsTer?
NM_000188.3:c.1373dup MANE Select NP_000179.2:p.Val459GlyfsTer?
NM_001322364.2:c.1385dup NP_001309293.1:p.Val463GlyfsTer?
NM_001322365.2:c.1478dup NP_001309294.1:p.Val494GlyfsTer?
NM_033496.3:c.1370dup NP_277031.1:p.Val458GlyfsTer?
NM_033497.3:c.1385dup NP_277032.1:p.Val463GlyfsTer?
NM_033498.3:c.1385dup NP_277033.1:p.Val463GlyfsTer?