Canonical Allele Identifier: CA2695202940
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150008del , CM000669.2:g.44150008del GRCh38
NC_000007.13:g.44189607del , CM000669.1:g.44189607del GRCh37
NC_000007.12:g.44156132del NCBI36
NG_008847.1:g.44416del
NG_008847.2:g.53163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*538del ENSP00000379142.4:n.*538del
ENST00000616242.5:c.540del ENSP00000482149.2:p.Asn180LysfsTer24
ENST00000682635.1:n.1026del
ENST00000345378.7:c.543del ENSP00000223366.2:p.Asn181LysfsTer24
ENST00000403799.8:c.540del MANE Select ENSP00000384247.3:p.Asn180LysfsTer24
ENST00000671824.1:c.540del ENSP00000500264.1:p.Asn180LysfsTer24
ENST00000673284.1:c.540del ENSP00000499852.1:p.Asn180LysfsTer24
ENST00000345378.6:c.543del ENSP00000223366.2:p.Asn181LysfsTer24
ENST00000395796.7:c.537del ENSP00000379142.3:p.Asn179LysfsTer24
ENST00000403799.7:c.540del ENSP00000384247.3:p.Asn180LysfsTer24
ENST00000437084.1:c.489del ENSP00000402840.1:p.Asn163LysfsTer24
ENST00000616242.4:c.537del ENSP00000482149.1:p.Asn179LysfsTer24
NM_000162.3:c.540del NP_000153.1:p.Asn180LysfsTer24
NM_033507.1:c.543del NP_277042.1:p.Asn181LysfsTer24
NM_033508.1:c.537del NP_277043.1:p.Asn179LysfsTer24
NM_000162.4:c.540del NP_000153.1:p.Asn180LysfsTer24
NM_001354800.1:c.540del NP_001341729.1:p.Asn180LysfsTer24
NM_033507.2:c.543del NP_277042.1:p.Asn181LysfsTer24
NM_033508.2:c.537del NP_277043.1:p.Asn179LysfsTer24
NM_000162.5:c.540del MANE Select NP_000153.1:p.Asn180LysfsTer24
NM_033507.3:c.543del NP_277042.1:p.Asn181LysfsTer24
NM_033508.3:c.537del NP_277043.1:p.Asn179LysfsTer24
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