Canonical Allele Identifier: CA1139771322
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571659
ClinVar RCV Id: RCV003313369

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145279del , CM000669.2:g.44145279del GRCh38
NC_000007.13:g.44184878del , CM000669.1:g.44184878del GRCh37
NC_000007.12:g.44151403del NCBI36
NG_008847.1:g.49146del
NG_008847.2:g.57893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1254del ENSP00000379142.4:n.*1254del
ENST00000616242.5:c.*376del ENSP00000482149.2:n.*376del
ENST00000683378.1:n.482del
ENST00000336642.9:c.290del ENSP00000338009.5:p.Phe97SerfsTer12
ENST00000345378.7:c.1259del ENSP00000223366.2:p.Phe420SerfsTer12
ENST00000403799.8:c.1256del MANE Select ENSP00000384247.3:p.Phe419SerfsTer12
ENST00000671824.1:c.1319del ENSP00000500264.1:p.Phe440SerfsTer12
ENST00000672743.1:n.268del
ENST00000673284.1:c.1256del ENSP00000499852.1:p.Phe419SerfsTer12
ENST00000336642.8:c.308del ENSP00000338009.4:p.Phe103SerfsTer12
ENST00000345378.6:c.1259del ENSP00000223366.2:p.Phe420SerfsTer12
ENST00000395796.7:c.1253del ENSP00000379142.3:p.Phe418SerfsTer12
ENST00000403799.7:c.1256del ENSP00000384247.3:p.Phe419SerfsTer12
ENST00000437084.1:c.1205del ENSP00000402840.1:p.Phe402SerfsTer12
ENST00000459642.1:n.636del
ENST00000616242.4:c.1253del ENSP00000482149.1:p.Phe418SerfsTer12
NM_000162.3:c.1256del NP_000153.1:p.Phe419SerfsTer12
NM_033507.1:c.1259del NP_277042.1:p.Phe420SerfsTer12
NM_033508.1:c.1253del NP_277043.1:p.Phe418SerfsTer12
NM_000162.4:c.1256del NP_000153.1:p.Phe419SerfsTer12
NM_001354800.1:c.1256del NP_001341729.1:p.Phe419SerfsTer12
NM_001354801.1:c.245del NP_001341730.1:p.Phe82SerfsTer12
NM_001354802.1:c.116del NP_001341731.1:p.Phe39SerfsTer12
NM_001354803.1:c.290del NP_001341732.1:p.Phe97SerfsTer12
NM_033507.2:c.1259del NP_277042.1:p.Phe420SerfsTer12
NM_033508.2:c.1253del NP_277043.1:p.Phe418SerfsTer12
XM_024446707.1:c.116del XP_024302475.1:p.Phe39SerfsTer12
NM_000162.5:c.1256del MANE Select NP_000153.1:p.Phe419SerfsTer12
NM_033507.3:c.1259del NP_277042.1:p.Phe420SerfsTer12
NM_033508.3:c.1253del NP_277043.1:p.Phe418SerfsTer12
NM_001354803.2:c.290del NP_001341732.1:p.Phe97SerfsTer12