Canonical Allele Identifier: CA2609447351

Gene: HK1

Linked Data

• gnomAD v4: 10-69384579-G-GACACAAATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69384580_69384581insCACAAATCCA , CM000672.2:g.69384580_69384581insCACAAATCCA	GRCh38
NC_000010.10:g.71144336_71144337insCACAAATCCA , CM000672.1:g.71144336_71144337insCACAAATCCA	GRCh37
NC_000010.9:g.70814342_70814343insCACAAATCCA	NCBI36
NG_012077.1:g.119581_119582insCACAAATCCA , LRG_365:g.119581_119582insCACAAATCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1719+99_1719+100insCACAAATCCA	ENSP00000515580.1:n.1719+99_1719+100insCACAAATCCA
ENST00000703945.1:c.1635+99_1635+100insCACAAATCCA	ENSP00000515578.1:n.1635+99_1635+100insCACAAATCCA
ENST00000703946.1:c.1265+4485_1265+4486insCACAAATCCA	ENSP00000515579.1:n.1265+4485_1265+4486insCACAAATCCA
ENST00000703947.1:c.1329+99_1329+100insCACAAATCCA	ENSP00000515581.1:n.1329+99_1329+100insCACAAATCCA
ENST00000703948.1:c.*1336+99_*1336+100insCACAAATCCA	ENSP00000515582.1:n.*1336+99_*1336+100insCACAAATCCA
ENST00000703949.1:c.1719+99_1719+100insCACAAATCCA	ENSP00000515583.1:n.1719+99_1719+100insCACAAATCCA
ENST00000703950.1:c.1719+99_1719+100insCACAAATCCA	ENSP00000515584.1:n.1719+99_1719+100insCACAAATCCA
ENST00000703951.1:c.1265+4485_1265+4486insCACAAATCCA	ENSP00000515585.1:n.1265+4485_1265+4486insCACAAATCCA
ENST00000703952.1:c.1265+4485_1265+4486insCACAAATCCA	ENSP00000515586.1:n.1265+4485_1265+4486insCACAAATCCA
ENST00000703953.1:c.*982+99_*982+100insCACAAATCCA	ENSP00000515587.1:n.*982+99_*982+100insCACAAATCCA
ENST00000703954.1:c.1599+99_1599+100insCACAAATCCA	ENSP00000515588.1:n.1599+99_1599+100insCACAAATCCA
ENST00000703955.1:n.2269+99_2269+100insCACAAATCCA
ENST00000703957.1:n.224+99_224+100insCACAAATCCA
ENST00000298649.8:c.1716+99_1716+100insCACAAATCCA	ENSP00000298649.3:n.1716+99_1716+100insCACAAATCCA
ENST00000359426.7:c.1719+99_1719+100insCACAAATCCA MANE Select	ENSP00000352398.6:n.1719+99_1719+100insCACAAATCCA
ENST00000436817.6:c.1731+99_1731+100insCACAAATCCA	ENSP00000415949.2:n.1731+99_1731+100insCACAAATCCA
ENST00000493591.6:c.*1607+99_*1607+100insCACAAATCCA	ENSP00000494917.1:n.*1607+99_*1607+100insCACAAATCCA
ENST00000643399.2:c.1731+99_1731+100insCACAAATCCA MANE Plus Clinical	ENSP00000494664.1:n.1731+99_1731+100insCACAAATCCA
ENST00000298649.7:c.1716+99_1716+100insCACAAATCCA	ENSP00000298649.3:n.1716+99_1716+100insCACAAATCCA
ENST00000359426.6:c.1719+99_1719+100insCACAAATCCA	ENSP00000352398.6:n.1719+99_1719+100insCACAAATCCA
ENST00000360289.6:c.1683+99_1683+100insCACAAATCCA	ENSP00000353433.2:n.1683+99_1683+100insCACAAATCCA
ENST00000448642.6:c.1731+99_1731+100insCACAAATCCA	ENSP00000402103.3:n.1731+99_1731+100insCACAAATCCA
ENST00000494253.1:n.2044_2045insCACAAATCCA
NM_000188.2:c.1719+99_1719+100insCACAAATCCA	NP_000179.2:n.1719+99_1719+100insCACAAATCCA
NM_033496.2:c.1716+99_1716+100insCACAAATCCA	NP_277031.1:n.1716+99_1716+100insCACAAATCCA
NM_033497.2:c.1731+99_1731+100insCACAAATCCA	NP_277032.1:n.1731+99_1731+100insCACAAATCCA
NM_033498.2:c.1731+99_1731+100insCACAAATCCA	NP_277033.1:n.1731+99_1731+100insCACAAATCCA
NM_033500.2:c.1683+99_1683+100insCACAAATCCA , LRG_365t1:c.1683+99_1683+100insCACAAATCCA	NP_277035.2:n.1683+99_1683+100insCACAAATCCA
XM_005269735.2:c.1848+99_1848+100insCACAAATCCA	XP_005269792.1:n.1848+99_1848+100insCACAAATCCA
XM_005269736.1:c.1731+99_1731+100insCACAAATCCA	XP_005269793.1:n.1731+99_1731+100insCACAAATCCA
XM_005269737.1:c.1635+99_1635+100insCACAAATCCA	XP_005269794.1:n.1635+99_1635+100insCACAAATCCA
XM_011539732.1:c.1683+99_1683+100insCACAAATCCA	XP_011538034.1:n.1683+99_1683+100insCACAAATCCA
XM_011539733.1:c.1677+99_1677+100insCACAAATCCA	XP_011538035.1:n.1677+99_1677+100insCACAAATCCA
XM_011539734.1:c.1674+99_1674+100insCACAAATCCA	XP_011538036.1:n.1674+99_1674+100insCACAAATCCA
NM_001322364.1:c.1731+99_1731+100insCACAAATCCA	NP_001309293.1:n.1731+99_1731+100insCACAAATCCA
NM_001322365.1:c.1824+99_1824+100insCACAAATCCA	NP_001309294.1:n.1824+99_1824+100insCACAAATCCA
NM_001322366.1:c.1635+99_1635+100insCACAAATCCA	NP_001309295.1:n.1635+99_1635+100insCACAAATCCA
NM_001322367.1:c.1623+99_1623+100insCACAAATCCA	NP_001309296.1:n.1623+99_1623+100insCACAAATCCA
NM_001358263.1:c.1731+99_1731+100insCACAAATCCA MANE Plus Clinical	NP_001345192.1:n.1731+99_1731+100insCACAAATCCA
XM_024447969.1:c.1731+99_1731+100insCACAAATCCA	XP_024303737.1:n.1731+99_1731+100insCACAAATCCA
NM_000188.3:c.1719+99_1719+100insCACAAATCCA MANE Select	NP_000179.2:n.1719+99_1719+100insCACAAATCCA
NM_001322364.2:c.1731+99_1731+100insCACAAATCCA	NP_001309293.1:n.1731+99_1731+100insCACAAATCCA
NM_001322365.2:c.1824+99_1824+100insCACAAATCCA	NP_001309294.1:n.1824+99_1824+100insCACAAATCCA
NM_033496.3:c.1716+99_1716+100insCACAAATCCA	NP_277031.1:n.1716+99_1716+100insCACAAATCCA
NM_033497.3:c.1731+99_1731+100insCACAAATCCA	NP_277032.1:n.1731+99_1731+100insCACAAATCCA
NM_033498.3:c.1731+99_1731+100insCACAAATCCA	NP_277033.1:n.1731+99_1731+100insCACAAATCCA