Canonical Allele Identifier: CA2695202982
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145527_44145531del , CM000669.2:g.44145527_44145531del GRCh38
NC_000007.13:g.44185126_44185130del , CM000669.1:g.44185126_44185130del GRCh37
NC_000007.12:g.44151651_44151655del NCBI36
NG_008847.1:g.48895_48899del
NG_008847.2:g.57642_57646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1219_*1223del ENSP00000379142.4:n.*1219_*1223del
ENST00000616242.5:c.*341_*345del ENSP00000482149.2:n.*341_*345del
ENST00000683378.1:n.447_451del
ENST00000336642.9:c.255_259del ENSP00000338009.5:p.Val86TrpfsTer?
ENST00000345378.7:c.1224_1228del ENSP00000223366.2:p.Val409TrpfsTer?
ENST00000403799.8:c.1221_1225del MANE Select ENSP00000384247.3:p.Val408TrpfsTer?
ENST00000671824.1:c.1284_1288del ENSP00000500264.1:p.Val429TrpfsTer?
ENST00000672743.1:n.233_237del
ENST00000673284.1:c.1221_1225del ENSP00000499852.1:p.Val408TrpfsTer?
ENST00000336642.8:c.273_277del ENSP00000338009.4:p.Val92TrpfsTer?
ENST00000345378.6:c.1224_1228del ENSP00000223366.2:p.Val409TrpfsTer?
ENST00000395796.7:c.1218_1222del ENSP00000379142.3:p.Val407TrpfsTer?
ENST00000403799.7:c.1221_1225del ENSP00000384247.3:p.Val408TrpfsTer?
ENST00000437084.1:c.1170_1174del ENSP00000402840.1:p.Val391TrpfsTer?
ENST00000459642.1:n.601_605del
ENST00000616242.4:c.1218_1222del ENSP00000482149.1:p.Val407TrpfsTer?
NM_000162.3:c.1221_1225del NP_000153.1:p.Val408TrpfsTer?
NM_033507.1:c.1224_1228del NP_277042.1:p.Val409TrpfsTer?
NM_033508.1:c.1218_1222del NP_277043.1:p.Val407TrpfsTer?
NM_000162.4:c.1221_1225del NP_000153.1:p.Val408TrpfsTer?
NM_001354800.1:c.1221_1225del NP_001341729.1:p.Val408TrpfsTer?
NM_001354801.1:c.210_214del NP_001341730.1:p.Val71TrpfsTer?
NM_001354802.1:c.81_85del NP_001341731.1:p.Val28TrpfsTer?
NM_001354803.1:c.255_259del NP_001341732.1:p.Val86TrpfsTer?
NM_033507.2:c.1224_1228del NP_277042.1:p.Val409TrpfsTer?
NM_033508.2:c.1218_1222del NP_277043.1:p.Val407TrpfsTer?
XM_024446707.1:c.81_85del XP_024302475.1:p.Val28TrpfsTer?
NM_000162.5:c.1221_1225del MANE Select NP_000153.1:p.Val408TrpfsTer?
NM_033507.3:c.1224_1228del NP_277042.1:p.Val409TrpfsTer?
NM_033508.3:c.1218_1222del NP_277043.1:p.Val407TrpfsTer?
NM_001354803.2:c.255_259del NP_001341732.1:p.Val86TrpfsTer?