Canonical Allele Identifier: CA1917773256
Gene: HK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69384528_69384529delinsTG , CM000672.2:g.69384528_69384529delinsTG GRCh38
NC_000010.10:g.71144284_71144285delinsTG , CM000672.1:g.71144284_71144285delinsTG GRCh37
NC_000010.9:g.70814290_70814291delinsTG NCBI36
NG_012077.1:g.119529_119530delinsTG , LRG_365:g.119529_119530delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470050.2:c.1719+47_1719+48delinsTG ENSP00000515580.1:n.1719+47_1719+48delinsTG
ENST00000703945.1:c.1635+47_1635+48delinsTG ENSP00000515578.1:n.1635+47_1635+48delinsTG
ENST00000703946.1:c.1265+4433_1265+4434delinsTG ENSP00000515579.1:n.1265+4433_1265+4434delinsTG
ENST00000703947.1:c.1329+47_1329+48delinsTG ENSP00000515581.1:n.1329+47_1329+48delinsTG
ENST00000703948.1:c.*1336+47_*1336+48delinsTG ENSP00000515582.1:n.*1336+47_*1336+48delinsTG
ENST00000703949.1:c.1719+47_1719+48delinsTG ENSP00000515583.1:n.1719+47_1719+48delinsTG
ENST00000703950.1:c.1719+47_1719+48delinsTG ENSP00000515584.1:n.1719+47_1719+48delinsTG
ENST00000703951.1:c.1265+4433_1265+4434delinsTG ENSP00000515585.1:n.1265+4433_1265+4434delinsTG
ENST00000703952.1:c.1265+4433_1265+4434delinsTG ENSP00000515586.1:n.1265+4433_1265+4434delinsTG
ENST00000703953.1:c.*982+47_*982+48delinsTG ENSP00000515587.1:n.*982+47_*982+48delinsTG
ENST00000703954.1:c.1599+47_1599+48delinsTG ENSP00000515588.1:n.1599+47_1599+48delinsTG
ENST00000703955.1:n.2269+47_2269+48delinsTG
ENST00000703957.1:n.224+47_224+48delinsTG
ENST00000298649.8:c.1716+47_1716+48delinsTG ENSP00000298649.3:n.1716+47_1716+48delinsTG
ENST00000359426.7:c.1719+47_1719+48delinsTG MANE Select ENSP00000352398.6:n.1719+47_1719+48delinsTG
ENST00000436817.6:c.1731+47_1731+48delinsTG ENSP00000415949.2:n.1731+47_1731+48delinsTG
ENST00000493591.6:c.*1607+47_*1607+48delinsTG ENSP00000494917.1:n.*1607+47_*1607+48delinsTG
ENST00000643399.2:c.1731+47_1731+48delinsTG MANE Plus Clinical ENSP00000494664.1:n.1731+47_1731+48delinsTG
ENST00000298649.7:c.1716+47_1716+48delinsTG ENSP00000298649.3:n.1716+47_1716+48delinsTG
ENST00000359426.6:c.1719+47_1719+48delinsTG ENSP00000352398.6:n.1719+47_1719+48delinsTG
ENST00000360289.6:c.1683+47_1683+48delinsTG ENSP00000353433.2:n.1683+47_1683+48delinsTG
ENST00000448642.6:c.1731+47_1731+48delinsTG ENSP00000402103.3:n.1731+47_1731+48delinsTG
ENST00000494253.1:n.1992_1993delinsTG
NM_000188.2:c.1719+47_1719+48delinsTG NP_000179.2:n.1719+47_1719+48delinsTG
NM_033496.2:c.1716+47_1716+48delinsTG NP_277031.1:n.1716+47_1716+48delinsTG
NM_033497.2:c.1731+47_1731+48delinsTG NP_277032.1:n.1731+47_1731+48delinsTG
NM_033498.2:c.1731+47_1731+48delinsTG NP_277033.1:n.1731+47_1731+48delinsTG
NM_033500.2:c.1683+47_1683+48delinsTG , LRG_365t1:c.1683+47_1683+48delinsTG NP_277035.2:n.1683+47_1683+48delinsTG
XM_005269735.2:c.1848+47_1848+48delinsTG XP_005269792.1:n.1848+47_1848+48delinsTG
XM_005269736.1:c.1731+47_1731+48delinsTG XP_005269793.1:n.1731+47_1731+48delinsTG
XM_005269737.1:c.1635+47_1635+48delinsTG XP_005269794.1:n.1635+47_1635+48delinsTG
XM_011539732.1:c.1683+47_1683+48delinsTG XP_011538034.1:n.1683+47_1683+48delinsTG
XM_011539733.1:c.1677+47_1677+48delinsTG XP_011538035.1:n.1677+47_1677+48delinsTG
XM_011539734.1:c.1674+47_1674+48delinsTG XP_011538036.1:n.1674+47_1674+48delinsTG
NM_001322364.1:c.1731+47_1731+48delinsTG NP_001309293.1:n.1731+47_1731+48delinsTG
NM_001322365.1:c.1824+47_1824+48delinsTG NP_001309294.1:n.1824+47_1824+48delinsTG
NM_001322366.1:c.1635+47_1635+48delinsTG NP_001309295.1:n.1635+47_1635+48delinsTG
NM_001322367.1:c.1623+47_1623+48delinsTG NP_001309296.1:n.1623+47_1623+48delinsTG
NM_001358263.1:c.1731+47_1731+48delinsTG MANE Plus Clinical NP_001345192.1:n.1731+47_1731+48delinsTG
XM_024447969.1:c.1731+47_1731+48delinsTG XP_024303737.1:n.1731+47_1731+48delinsTG
NM_000188.3:c.1719+47_1719+48delinsTG MANE Select NP_000179.2:n.1719+47_1719+48delinsTG
NM_001322364.2:c.1731+47_1731+48delinsTG NP_001309293.1:n.1731+47_1731+48delinsTG
NM_001322365.2:c.1824+47_1824+48delinsTG NP_001309294.1:n.1824+47_1824+48delinsTG
NM_033496.3:c.1716+47_1716+48delinsTG NP_277031.1:n.1716+47_1716+48delinsTG
NM_033497.3:c.1731+47_1731+48delinsTG NP_277032.1:n.1731+47_1731+48delinsTG
NM_033498.3:c.1731+47_1731+48delinsTG NP_277033.1:n.1731+47_1731+48delinsTG