Canonical Allele Identifier: CA2682585276
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146322_44146324del , CM000669.2:g.44146322_44146324del GRCh38
NC_000007.13:g.44185921_44185923del , CM000669.1:g.44185921_44185923del GRCh37
NC_000007.12:g.44152446_44152448del NCBI36
NG_008847.1:g.48100_48102del
NG_008847.2:g.56847_56849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+139_*1017+141del ENSP00000379142.4:n.*1017+139_*1017+141del
ENST00000616242.5:c.*139+139_*139+141del ENSP00000482149.2:n.*139+139_*139+141del
ENST00000683378.1:n.245+139_245+141del
ENST00000345378.7:c.1022+139_1022+141del ENSP00000223366.2:n.1022+139_1022+141del
ENST00000403799.8:c.1019+139_1019+141del MANE Select ENSP00000384247.3:n.1019+139_1019+141del
ENST00000671824.1:c.1082+139_1082+141del ENSP00000500264.1:n.1082+139_1082+141del
ENST00000673284.1:c.1019+139_1019+141del ENSP00000499852.1:n.1019+139_1019+141del
ENST00000345378.6:c.1022+139_1022+141del ENSP00000223366.2:n.1022+139_1022+141del
ENST00000395796.7:c.1016+139_1016+141del ENSP00000379142.3:n.1016+139_1016+141del
ENST00000403799.7:c.1019+139_1019+141del ENSP00000384247.3:n.1019+139_1019+141del
ENST00000437084.1:c.968+139_968+141del ENSP00000402840.1:n.968+139_968+141del
ENST00000473353.1:n.317+139_317+141del
ENST00000616242.4:c.1016+139_1016+141del ENSP00000482149.1:n.1016+139_1016+141del
NM_000162.3:c.1019+139_1019+141del NP_000153.1:n.1019+139_1019+141del
NM_033507.1:c.1022+139_1022+141del NP_277042.1:n.1022+139_1022+141del
NM_033508.1:c.1016+139_1016+141del NP_277043.1:n.1016+139_1016+141del
NM_000162.4:c.1019+139_1019+141del NP_000153.1:n.1019+139_1019+141del
NM_001354800.1:c.1019+139_1019+141del NP_001341729.1:n.1019+139_1019+141del
NM_001354801.1:c.8+295_8+297del NP_001341730.1:n.8+295_8+297del
NM_033507.2:c.1022+139_1022+141del NP_277042.1:n.1022+139_1022+141del
NM_033508.2:c.1016+139_1016+141del NP_277043.1:n.1016+139_1016+141del
NM_000162.5:c.1019+139_1019+141del MANE Select NP_000153.1:n.1019+139_1019+141del
NM_033507.3:c.1022+139_1022+141del NP_277042.1:n.1022+139_1022+141del
NM_033508.3:c.1016+139_1016+141del NP_277043.1:n.1016+139_1016+141del