Canonical Allele Identifier: CA2682585201
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146296_44146297del , CM000669.2:g.44146296_44146297del GRCh38
NC_000007.13:g.44185895_44185896del , CM000669.1:g.44185895_44185896del GRCh37
NC_000007.12:g.44152420_44152421del NCBI36
NG_008847.1:g.48130_48131del
NG_008847.2:g.56877_56878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+169_*1017+170del ENSP00000379142.4:n.*1017+169_*1017+170del
ENST00000616242.5:c.*139+169_*139+170del ENSP00000482149.2:n.*139+169_*139+170del
ENST00000683378.1:n.245+169_245+170del
ENST00000345378.7:c.1022+169_1022+170del ENSP00000223366.2:n.1022+169_1022+170del
ENST00000403799.8:c.1019+169_1019+170del MANE Select ENSP00000384247.3:n.1019+169_1019+170del
ENST00000671824.1:c.1082+169_1082+170del ENSP00000500264.1:n.1082+169_1082+170del
ENST00000673284.1:c.1019+169_1019+170del ENSP00000499852.1:n.1019+169_1019+170del
ENST00000345378.6:c.1022+169_1022+170del ENSP00000223366.2:n.1022+169_1022+170del
ENST00000395796.7:c.1016+169_1016+170del ENSP00000379142.3:n.1016+169_1016+170del
ENST00000403799.7:c.1019+169_1019+170del ENSP00000384247.3:n.1019+169_1019+170del
ENST00000437084.1:c.968+169_968+170del ENSP00000402840.1:n.968+169_968+170del
ENST00000473353.1:n.317+169_317+170del
ENST00000616242.4:c.1016+169_1016+170del ENSP00000482149.1:n.1016+169_1016+170del
NM_000162.3:c.1019+169_1019+170del NP_000153.1:n.1019+169_1019+170del
NM_033507.1:c.1022+169_1022+170del NP_277042.1:n.1022+169_1022+170del
NM_033508.1:c.1016+169_1016+170del NP_277043.1:n.1016+169_1016+170del
NM_000162.4:c.1019+169_1019+170del NP_000153.1:n.1019+169_1019+170del
NM_001354800.1:c.1019+169_1019+170del NP_001341729.1:n.1019+169_1019+170del
NM_001354801.1:c.8+325_8+326del NP_001341730.1:n.8+325_8+326del
NM_033507.2:c.1022+169_1022+170del NP_277042.1:n.1022+169_1022+170del
NM_033508.2:c.1016+169_1016+170del NP_277043.1:n.1016+169_1016+170del
NM_000162.5:c.1019+169_1019+170del MANE Select NP_000153.1:n.1019+169_1019+170del
NM_033507.3:c.1022+169_1022+170del NP_277042.1:n.1022+169_1022+170del
NM_033508.3:c.1016+169_1016+170del NP_277043.1:n.1016+169_1016+170del