Canonical Allele Identifier: CA2695203053
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2684201
ClinVar RCV Id: RCV003482697

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145668dup , CM000669.2:g.44145668dup GRCh38
NC_000007.13:g.44185267dup , CM000669.1:g.44185267dup GRCh37
NC_000007.12:g.44151792dup NCBI36
NG_008847.1:g.48757dup
NG_008847.2:g.57504dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1081dup ENSP00000379142.4:n.*1081dup
ENST00000616242.5:c.*203dup ENSP00000482149.2:n.*203dup
ENST00000683378.1:n.309dup
ENST00000336642.9:c.117dup ENSP00000338009.5:p.Thr40HisfsTer?
ENST00000345378.7:c.1086dup ENSP00000223366.2:p.Thr363HisfsTer?
ENST00000403799.8:c.1083dup MANE Select ENSP00000384247.3:p.Thr362HisfsTer?
ENST00000671824.1:c.1146dup ENSP00000500264.1:p.Thr383HisfsTer?
ENST00000672743.1:n.95dup
ENST00000673284.1:c.1083dup ENSP00000499852.1:p.Thr362HisfsTer?
ENST00000336642.8:c.135dup ENSP00000338009.4:p.Thr46HisfsTer?
ENST00000345378.6:c.1086dup ENSP00000223366.2:p.Thr363HisfsTer?
ENST00000395796.7:c.1080dup ENSP00000379142.3:p.Thr361HisfsTer?
ENST00000403799.7:c.1083dup ENSP00000384247.3:p.Thr362HisfsTer?
ENST00000437084.1:c.1032dup ENSP00000402840.1:p.Thr345HisfsTer?
ENST00000459642.1:n.463dup
ENST00000473353.1:n.381dup
ENST00000616242.4:c.1080dup ENSP00000482149.1:p.Thr361HisfsTer?
NM_000162.3:c.1083dup NP_000153.1:p.Thr362HisfsTer?
NM_033507.1:c.1086dup NP_277042.1:p.Thr363HisfsTer?
NM_033508.1:c.1080dup NP_277043.1:p.Thr361HisfsTer?
NM_000162.4:c.1083dup NP_000153.1:p.Thr362HisfsTer?
NM_001354800.1:c.1083dup NP_001341729.1:p.Thr362HisfsTer?
NM_001354801.1:c.72dup NP_001341730.1:p.Thr25HisfsTer?
NM_001354802.1:c.-58dup NP_001341731.1:n.-58dup
NM_001354803.1:c.117dup NP_001341732.1:p.Thr40HisfsTer?
NM_033507.2:c.1086dup NP_277042.1:p.Thr363HisfsTer?
NM_033508.2:c.1080dup NP_277043.1:p.Thr361HisfsTer?
XM_024446707.1:c.-58dup XP_024302475.1:n.-58dup
NM_000162.5:c.1083dup MANE Select NP_000153.1:p.Thr362HisfsTer?
NM_033507.3:c.1086dup NP_277042.1:p.Thr363HisfsTer?
NM_033508.3:c.1080dup NP_277043.1:p.Thr361HisfsTer?
NM_001354803.2:c.117dup NP_001341732.1:p.Thr40HisfsTer?