Canonical Allele Identifier: CA2775232068
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146252_44146275del , CM000669.2:g.44146252_44146275del GRCh38
NC_000007.13:g.44185851_44185874del , CM000669.1:g.44185851_44185874del GRCh37
NC_000007.12:g.44152376_44152399del NCBI36
NG_008847.1:g.48149_48172del
NG_008847.2:g.56896_56919del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1017+188_*1017+211del ENSP00000379142.4:n.*1017+188_*1017+211del
ENST00000616242.5:c.*139+188_*139+211del ENSP00000482149.2:n.*139+188_*139+211del
ENST00000683378.1:n.245+188_245+211del
ENST00000345378.7:c.1022+188_1022+211del ENSP00000223366.2:n.1022+188_1022+211del
ENST00000403799.8:c.1019+188_1019+211del MANE Select ENSP00000384247.3:n.1019+188_1019+211del
ENST00000671824.1:c.1082+188_1082+211del ENSP00000500264.1:n.1082+188_1082+211del
ENST00000673284.1:c.1019+188_1019+211del ENSP00000499852.1:n.1019+188_1019+211del
ENST00000345378.6:c.1022+188_1022+211del ENSP00000223366.2:n.1022+188_1022+211del
ENST00000395796.7:c.1016+188_1016+211del ENSP00000379142.3:n.1016+188_1016+211del
ENST00000403799.7:c.1019+188_1019+211del ENSP00000384247.3:n.1019+188_1019+211del
ENST00000437084.1:c.968+188_968+211del ENSP00000402840.1:n.968+188_968+211del
ENST00000473353.1:n.317+188_317+211del
ENST00000616242.4:c.1016+188_1016+211del ENSP00000482149.1:n.1016+188_1016+211del
NM_000162.3:c.1019+188_1019+211del NP_000153.1:n.1019+188_1019+211del
NM_033507.1:c.1022+188_1022+211del NP_277042.1:n.1022+188_1022+211del
NM_033508.1:c.1016+188_1016+211del NP_277043.1:n.1016+188_1016+211del
NM_000162.4:c.1019+188_1019+211del NP_000153.1:n.1019+188_1019+211del
NM_001354800.1:c.1019+188_1019+211del NP_001341729.1:n.1019+188_1019+211del
NM_001354801.1:c.8+344_8+367del NP_001341730.1:n.8+344_8+367del
NM_033507.2:c.1022+188_1022+211del NP_277042.1:n.1022+188_1022+211del
NM_033508.2:c.1016+188_1016+211del NP_277043.1:n.1016+188_1016+211del
NM_000162.5:c.1019+188_1019+211del MANE Select NP_000153.1:n.1019+188_1019+211del
NM_033507.3:c.1022+188_1022+211del NP_277042.1:n.1022+188_1022+211del
NM_033508.3:c.1016+188_1016+211del NP_277043.1:n.1016+188_1016+211del