Canonical Allele Identifier: CA2682584988
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146284_44146287del , CM000669.2:g.44146284_44146287del GRCh38
NC_000007.13:g.44185883_44185886del , CM000669.1:g.44185883_44185886del GRCh37
NC_000007.12:g.44152408_44152411del NCBI36
NG_008847.1:g.48138_48141del
NG_008847.2:g.56885_56888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+177_*1017+180del ENSP00000379142.4:n.*1017+177_*1017+180del
ENST00000616242.5:c.*139+177_*139+180del ENSP00000482149.2:n.*139+177_*139+180del
ENST00000683378.1:n.245+177_245+180del
ENST00000345378.7:c.1022+177_1022+180del ENSP00000223366.2:n.1022+177_1022+180del
ENST00000403799.8:c.1019+177_1019+180del MANE Select ENSP00000384247.3:n.1019+177_1019+180del
ENST00000671824.1:c.1082+177_1082+180del ENSP00000500264.1:n.1082+177_1082+180del
ENST00000673284.1:c.1019+177_1019+180del ENSP00000499852.1:n.1019+177_1019+180del
ENST00000345378.6:c.1022+177_1022+180del ENSP00000223366.2:n.1022+177_1022+180del
ENST00000395796.7:c.1016+177_1016+180del ENSP00000379142.3:n.1016+177_1016+180del
ENST00000403799.7:c.1019+177_1019+180del ENSP00000384247.3:n.1019+177_1019+180del
ENST00000437084.1:c.968+177_968+180del ENSP00000402840.1:n.968+177_968+180del
ENST00000473353.1:n.317+177_317+180del
ENST00000616242.4:c.1016+177_1016+180del ENSP00000482149.1:n.1016+177_1016+180del
NM_000162.3:c.1019+177_1019+180del NP_000153.1:n.1019+177_1019+180del
NM_033507.1:c.1022+177_1022+180del NP_277042.1:n.1022+177_1022+180del
NM_033508.1:c.1016+177_1016+180del NP_277043.1:n.1016+177_1016+180del
NM_000162.4:c.1019+177_1019+180del NP_000153.1:n.1019+177_1019+180del
NM_001354800.1:c.1019+177_1019+180del NP_001341729.1:n.1019+177_1019+180del
NM_001354801.1:c.8+333_8+336del NP_001341730.1:n.8+333_8+336del
NM_033507.2:c.1022+177_1022+180del NP_277042.1:n.1022+177_1022+180del
NM_033508.2:c.1016+177_1016+180del NP_277043.1:n.1016+177_1016+180del
NM_000162.5:c.1019+177_1019+180del MANE Select NP_000153.1:n.1019+177_1019+180del
NM_033507.3:c.1022+177_1022+180del NP_277042.1:n.1022+177_1022+180del
NM_033508.3:c.1016+177_1016+180del NP_277043.1:n.1016+177_1016+180del