Canonical Allele Identifier: CA2695202947
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150056_44150058del , CM000669.2:g.44150056_44150058del GRCh38
NC_000007.13:g.44189655_44189657del , CM000669.1:g.44189655_44189657del GRCh37
NC_000007.12:g.44156180_44156182del NCBI36
NG_008847.1:g.44368_44370del
NG_008847.2:g.53115_53117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*490_*492del ENSP00000379142.4:n.*490_*492del
ENST00000616242.5:c.492_494del ENSP00000482149.2:p.Leu165del
ENST00000682635.1:n.978_980del
ENST00000345378.7:c.495_497del ENSP00000223366.2:p.Leu166del
ENST00000403799.8:c.492_494del MANE Select ENSP00000384247.3:p.Leu165del
ENST00000671824.1:c.492_494del ENSP00000500264.1:p.Leu165del
ENST00000673284.1:c.492_494del ENSP00000499852.1:p.Leu165del
ENST00000345378.6:c.495_497del ENSP00000223366.2:p.Leu166del
ENST00000395796.7:c.489_491del ENSP00000379142.3:p.Leu164del
ENST00000403799.7:c.492_494del ENSP00000384247.3:p.Leu165del
ENST00000437084.1:c.441_443del ENSP00000402840.1:p.Leu148del
ENST00000616242.4:c.489_491del ENSP00000482149.1:p.Leu164del
NM_000162.3:c.492_494del NP_000153.1:p.Leu165del
NM_033507.1:c.495_497del NP_277042.1:p.Leu166del
NM_033508.1:c.489_491del NP_277043.1:p.Leu164del
NM_000162.4:c.492_494del NP_000153.1:p.Leu165del
NM_001354800.1:c.492_494del NP_001341729.1:p.Leu165del
NM_033507.2:c.495_497del NP_277042.1:p.Leu166del
NM_033508.2:c.489_491del NP_277043.1:p.Leu164del
NM_000162.5:c.492_494del MANE Select NP_000153.1:p.Leu165del
NM_033507.3:c.495_497del NP_277042.1:p.Leu166del
NM_033508.3:c.489_491del NP_277043.1:p.Leu164del
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