Canonical Allele Identifier: CA2695202961
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145245_44145247del , CM000669.2:g.44145245_44145247del GRCh38
NC_000007.13:g.44184844_44184846del , CM000669.1:g.44184844_44184846del GRCh37
NC_000007.12:g.44151369_44151371del NCBI36
NG_008847.1:g.49178_49180del
NG_008847.2:g.57925_57927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1286_*1288del ENSP00000379142.4:n.*1286_*1288del
ENST00000616242.5:c.*408_*410del ENSP00000482149.2:n.*408_*410del
ENST00000683378.1:n.514_516del
ENST00000336642.9:c.322_324del ENSP00000338009.5:p.Leu108del
ENST00000345378.7:c.1291_1293del ENSP00000223366.2:p.Leu431del
ENST00000403799.8:c.1288_1290del MANE Select ENSP00000384247.3:p.Leu430del
ENST00000671824.1:c.1351_1353del ENSP00000500264.1:p.Leu451del
ENST00000672743.1:n.300_302del
ENST00000673284.1:c.1288_1290del ENSP00000499852.1:p.Leu430del
ENST00000336642.8:c.340_342del ENSP00000338009.4:p.Leu114del
ENST00000345378.6:c.1291_1293del ENSP00000223366.2:p.Leu431del
ENST00000395796.7:c.1285_1287del ENSP00000379142.3:p.Leu429del
ENST00000403799.7:c.1288_1290del ENSP00000384247.3:p.Leu430del
ENST00000437084.1:c.1237_1239del ENSP00000402840.1:p.Leu413del
ENST00000459642.1:n.668_670del
ENST00000616242.4:c.1285_1287del ENSP00000482149.1:p.Leu429del
NM_000162.3:c.1288_1290del NP_000153.1:p.Leu430del
NM_033507.1:c.1291_1293del NP_277042.1:p.Leu431del
NM_033508.1:c.1285_1287del NP_277043.1:p.Leu429del
NM_000162.4:c.1288_1290del NP_000153.1:p.Leu430del
NM_001354800.1:c.1288_1290del NP_001341729.1:p.Leu430del
NM_001354801.1:c.277_279del NP_001341730.1:p.Leu93del
NM_001354802.1:c.148_150del NP_001341731.1:p.Leu50del
NM_001354803.1:c.322_324del NP_001341732.1:p.Leu108del
NM_033507.2:c.1291_1293del NP_277042.1:p.Leu431del
NM_033508.2:c.1285_1287del NP_277043.1:p.Leu429del
XM_024446707.1:c.148_150del XP_024302475.1:p.Leu50del
NM_000162.5:c.1288_1290del MANE Select NP_000153.1:p.Leu430del
NM_033507.3:c.1291_1293del NP_277042.1:p.Leu431del
NM_033508.3:c.1285_1287del NP_277043.1:p.Leu429del
NM_001354803.2:c.322_324del NP_001341732.1:p.Leu108del