Canonical Allele Identifier: CA2559936491
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146196_44146326del , CM000669.2:g.44146196_44146326del GRCh38
NC_000007.13:g.44185795_44185925del , CM000669.1:g.44185795_44185925del GRCh37
NC_000007.12:g.44152320_44152450del NCBI36
NG_008847.1:g.48100_48230del
NG_008847.2:g.56847_56977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+139_*1017+269del ENSP00000379142.4:n.*1017+139_*1017+269del
ENST00000616242.5:c.*139+139_*139+269del ENSP00000482149.2:n.*139+139_*139+269del
ENST00000683378.1:n.245+139_245+269del
ENST00000345378.7:c.1022+139_1022+269del ENSP00000223366.2:n.1022+139_1022+269del
ENST00000403799.8:c.1019+139_1019+269del MANE Select ENSP00000384247.3:n.1019+139_1019+269del
ENST00000671824.1:c.1082+139_1082+269del ENSP00000500264.1:n.1082+139_1082+269del
ENST00000673284.1:c.1019+139_1019+269del ENSP00000499852.1:n.1019+139_1019+269del
ENST00000345378.6:c.1022+139_1022+269del ENSP00000223366.2:n.1022+139_1022+269del
ENST00000395796.7:c.1016+139_1016+269del ENSP00000379142.3:n.1016+139_1016+269del
ENST00000403799.7:c.1019+139_1019+269del ENSP00000384247.3:n.1019+139_1019+269del
ENST00000437084.1:c.968+139_968+269del ENSP00000402840.1:n.968+139_968+269del
ENST00000473353.1:n.317+139_317+269del
ENST00000616242.4:c.1016+139_1016+269del ENSP00000482149.1:n.1016+139_1016+269del
NM_000162.3:c.1019+139_1019+269del NP_000153.1:n.1019+139_1019+269del
NM_033507.1:c.1022+139_1022+269del NP_277042.1:n.1022+139_1022+269del
NM_033508.1:c.1016+139_1016+269del NP_277043.1:n.1016+139_1016+269del
NM_000162.4:c.1019+139_1019+269del NP_000153.1:n.1019+139_1019+269del
NM_001354800.1:c.1019+139_1019+269del NP_001341729.1:n.1019+139_1019+269del
NM_001354801.1:c.8+295_8+425del NP_001341730.1:n.8+295_8+425del
NM_033507.2:c.1022+139_1022+269del NP_277042.1:n.1022+139_1022+269del
NM_033508.2:c.1016+139_1016+269del NP_277043.1:n.1016+139_1016+269del
NM_000162.5:c.1019+139_1019+269del MANE Select NP_000153.1:n.1019+139_1019+269del
NM_033507.3:c.1022+139_1022+269del NP_277042.1:n.1022+139_1022+269del
NM_033508.3:c.1016+139_1016+269del NP_277043.1:n.1016+139_1016+269del