Canonical Allele Identifier: CA2525121212
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153349_44153350del , CM000669.2:g.44153349_44153350del GRCh38
NC_000007.13:g.44192948_44192949del , CM000669.1:g.44192948_44192949del GRCh37
NC_000007.12:g.44159473_44159474del NCBI36
NG_008847.1:g.41074_41075del
NG_008847.2:g.49821_49822del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*157_*158del ENSP00000379142.4:n.*157_*158del
ENST00000616242.5:c.159_160del ENSP00000482149.2:p.Ser54CysfsTer29
ENST00000682635.1:n.645_646del
ENST00000345378.7:c.162_163del ENSP00000223366.2:p.Ser55CysfsTer29
ENST00000403799.8:c.159_160del MANE Select ENSP00000384247.3:p.Ser54CysfsTer29
ENST00000671824.1:c.159_160del ENSP00000500264.1:p.Ser54CysfsTer29
ENST00000673284.1:c.159_160del ENSP00000499852.1:p.Ser54CysfsTer29
ENST00000345378.6:c.162_163del ENSP00000223366.2:p.Ser55CysfsTer29
ENST00000395796.7:c.156_157del ENSP00000379142.3:p.Ser53CysfsTer29
ENST00000403799.7:c.159_160del ENSP00000384247.3:p.Ser54CysfsTer29
ENST00000437084.1:c.159_160del ENSP00000402840.1:p.Ser54CysfsTer29
ENST00000616242.4:c.156_157del ENSP00000482149.1:p.Ser53CysfsTer29
NM_000162.3:c.159_160del NP_000153.1:p.Ser54CysfsTer29
NM_033507.1:c.162_163del NP_277042.1:p.Ser55CysfsTer29
NM_033508.1:c.156_157del NP_277043.1:p.Ser53CysfsTer29
NM_000162.4:c.159_160del NP_000153.1:p.Ser54CysfsTer29
NM_001354800.1:c.159_160del NP_001341729.1:p.Ser54CysfsTer29
NM_033507.2:c.162_163del NP_277042.1:p.Ser55CysfsTer29
NM_033508.2:c.156_157del NP_277043.1:p.Ser53CysfsTer29
NM_000162.5:c.159_160del MANE Select NP_000153.1:p.Ser54CysfsTer29
NM_033507.3:c.162_163del NP_277042.1:p.Ser55CysfsTer29
NM_033508.3:c.156_157del NP_277043.1:p.Ser53CysfsTer29
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