Canonical Allele Identifier: CA2682584652
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146238_44146306del , CM000669.2:g.44146238_44146306del GRCh38
NC_000007.13:g.44185837_44185905del , CM000669.1:g.44185837_44185905del GRCh37
NC_000007.12:g.44152362_44152430del NCBI36
NG_008847.1:g.48122_48190del
NG_008847.2:g.56869_56937del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1017+161_*1017+229del ENSP00000379142.4:n.*1017+161_*1017+229del
ENST00000616242.5:c.*139+161_*139+229del ENSP00000482149.2:n.*139+161_*139+229del
ENST00000683378.1:n.245+161_245+229del
ENST00000345378.7:c.1022+161_1022+229del ENSP00000223366.2:n.1022+161_1022+229del
ENST00000403799.8:c.1019+161_1019+229del MANE Select ENSP00000384247.3:n.1019+161_1019+229del
ENST00000671824.1:c.1082+161_1082+229del ENSP00000500264.1:n.1082+161_1082+229del
ENST00000673284.1:c.1019+161_1019+229del ENSP00000499852.1:n.1019+161_1019+229del
ENST00000345378.6:c.1022+161_1022+229del ENSP00000223366.2:n.1022+161_1022+229del
ENST00000395796.7:c.1016+161_1016+229del ENSP00000379142.3:n.1016+161_1016+229del
ENST00000403799.7:c.1019+161_1019+229del ENSP00000384247.3:n.1019+161_1019+229del
ENST00000437084.1:c.968+161_968+229del ENSP00000402840.1:n.968+161_968+229del
ENST00000473353.1:n.317+161_317+229del
ENST00000616242.4:c.1016+161_1016+229del ENSP00000482149.1:n.1016+161_1016+229del
NM_000162.3:c.1019+161_1019+229del NP_000153.1:n.1019+161_1019+229del
NM_033507.1:c.1022+161_1022+229del NP_277042.1:n.1022+161_1022+229del
NM_033508.1:c.1016+161_1016+229del NP_277043.1:n.1016+161_1016+229del
NM_000162.4:c.1019+161_1019+229del NP_000153.1:n.1019+161_1019+229del
NM_001354800.1:c.1019+161_1019+229del NP_001341729.1:n.1019+161_1019+229del
NM_001354801.1:c.8+317_8+385del NP_001341730.1:n.8+317_8+385del
NM_033507.2:c.1022+161_1022+229del NP_277042.1:n.1022+161_1022+229del
NM_033508.2:c.1016+161_1016+229del NP_277043.1:n.1016+161_1016+229del
NM_000162.5:c.1019+161_1019+229del MANE Select NP_000153.1:n.1019+161_1019+229del
NM_033507.3:c.1022+161_1022+229del NP_277042.1:n.1022+161_1022+229del
NM_033508.3:c.1016+161_1016+229del NP_277043.1:n.1016+161_1016+229del