Canonical Allele Identifier: CA2682589428
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147866-AGCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147869_44147871del , CM000669.2:g.44147869_44147871del GRCh38
NC_000007.13:g.44187468_44187470del , CM000669.1:g.44187468_44187470del GRCh37
NC_000007.12:g.44153993_44153995del NCBI36
NG_008847.1:g.46555_46557del
NG_008847.2:g.55302_55304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-36_*678-34del ENSP00000379142.4:n.*678-36_*678-34del
ENST00000616242.5:c.680-36_680-34del ENSP00000482149.2:n.680-36_680-34del
ENST00000345378.7:c.683-36_683-34del ENSP00000223366.2:n.683-36_683-34del
ENST00000403799.8:c.680-36_680-34del MANE Select ENSP00000384247.3:n.680-36_680-34del
ENST00000671824.1:c.680-36_680-34del ENSP00000500264.1:n.680-36_680-34del
ENST00000673284.1:c.680-36_680-34del ENSP00000499852.1:n.680-36_680-34del
ENST00000345378.6:c.683-36_683-34del ENSP00000223366.2:n.683-36_683-34del
ENST00000395796.7:c.677-36_677-34del ENSP00000379142.3:n.677-36_677-34del
ENST00000403799.7:c.680-36_680-34del ENSP00000384247.3:n.680-36_680-34del
ENST00000437084.1:c.629-36_629-34del ENSP00000402840.1:n.629-36_629-34del
ENST00000616242.4:c.677-36_677-34del ENSP00000482149.1:n.677-36_677-34del
NM_000162.3:c.680-36_680-34del NP_000153.1:n.680-36_680-34del
NM_033507.1:c.683-36_683-34del NP_277042.1:n.683-36_683-34del
NM_033508.1:c.677-36_677-34del NP_277043.1:n.677-36_677-34del
XR_927223.1:n.82+121_82+123del
NM_000162.4:c.680-36_680-34del NP_000153.1:n.680-36_680-34del
NM_001354800.1:c.680-36_680-34del NP_001341729.1:n.680-36_680-34del
NM_033507.2:c.683-36_683-34del NP_277042.1:n.683-36_683-34del
NM_033508.2:c.677-36_677-34del NP_277043.1:n.677-36_677-34del
XR_927223.2:n.82+121_82+123del
NM_000162.5:c.680-36_680-34del MANE Select NP_000153.1:n.680-36_680-34del
NM_033507.3:c.683-36_683-34del NP_277042.1:n.683-36_683-34del
NM_033508.3:c.677-36_677-34del NP_277043.1:n.677-36_677-34del
Search 100 bp 5'
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