Canonical Allele Identifier: CA2695202953
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145194dup , CM000669.2:g.44145194dup GRCh38
NC_000007.13:g.44184793dup , CM000669.1:g.44184793dup GRCh37
NC_000007.12:g.44151318dup NCBI36
NG_008847.1:g.49233dup
NG_008847.2:g.57980dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1341dup ENSP00000379142.4:n.*1341dup
ENST00000616242.5:c.*463dup ENSP00000482149.2:n.*463dup
ENST00000683378.1:n.569dup
ENST00000336642.9:c.377dup ENSP00000338009.5:p.Ala127ArgfsTer10
ENST00000345378.7:c.1346dup ENSP00000223366.2:p.Ala450ArgfsTer10
ENST00000403799.8:c.1343dup MANE Select ENSP00000384247.3:p.Ala449ArgfsTer10
ENST00000671824.1:c.1406dup ENSP00000500264.1:p.Ala470ArgfsTer10
ENST00000672743.1:n.355dup
ENST00000673284.1:c.1343dup ENSP00000499852.1:p.Ala449ArgfsTer23
ENST00000336642.8:c.395dup ENSP00000338009.4:p.Ala133ArgfsTer10
ENST00000345378.6:c.1346dup ENSP00000223366.2:p.Ala450ArgfsTer10
ENST00000395796.7:c.1340dup ENSP00000379142.3:p.Ala448ArgfsTer10
ENST00000403799.7:c.1343dup ENSP00000384247.3:p.Ala449ArgfsTer10
ENST00000437084.1:c.1292dup ENSP00000402840.1:p.Ala432ArgfsTer10
ENST00000459642.1:n.723dup
ENST00000616242.4:c.1340dup ENSP00000482149.1:p.Ala448ArgfsTer10
NM_000162.3:c.1343dup NP_000153.1:p.Ala449ArgfsTer10
NM_033507.1:c.1346dup NP_277042.1:p.Ala450ArgfsTer10
NM_033508.1:c.1340dup NP_277043.1:p.Ala448ArgfsTer10
NM_000162.4:c.1343dup NP_000153.1:p.Ala449ArgfsTer10
NM_001354800.1:c.1343dup NP_001341729.1:p.Ala449ArgfsTer23
NM_001354801.1:c.332dup NP_001341730.1:p.Ala112ArgfsTer10
NM_001354802.1:c.203dup NP_001341731.1:p.Ala69ArgfsTer23
NM_001354803.1:c.377dup NP_001341732.1:p.Ala127ArgfsTer10
NM_033507.2:c.1346dup NP_277042.1:p.Ala450ArgfsTer10
NM_033508.2:c.1340dup NP_277043.1:p.Ala448ArgfsTer10
XM_024446707.1:c.203dup XP_024302475.1:p.Ala69ArgfsTer10
NM_000162.5:c.1343dup MANE Select NP_000153.1:p.Ala449ArgfsTer10
NM_033507.3:c.1346dup NP_277042.1:p.Ala450ArgfsTer10
NM_033508.3:c.1340dup NP_277043.1:p.Ala448ArgfsTer10
NM_001354803.2:c.377dup NP_001341732.1:p.Ala127ArgfsTer10