Canonical Allele Identifier: CA1139771354

Gene: GCK

Linked Data

• ClinVar Variation Id: 1769182
• ClinVar RCV Id: RCV002380620 ; RCV003330332
• ERepo: CA1139771354/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145237_44145239delinsCGGC , CM000669.2:g.44145237_44145239delinsCGGC	GRCh38
NC_000007.13:g.44184836_44184838delinsCGGC , CM000669.1:g.44184836_44184838delinsCGGC	GRCh37
NC_000007.12:g.44151361_44151363delinsCGGC	NCBI36
NG_008847.1:g.49185_49187delinsGCCG
NG_008847.2:g.57932_57934delinsGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1293_*1295delinsGCCG	ENSP00000379142.4:n.*1293_*1295delinsGCCG
ENST00000616242.5:c.*415_*417delinsGCCG	ENSP00000482149.2:n.*415_*417delinsGCCG
ENST00000683378.1:n.521_523delinsGCCG
ENST00000336642.9:c.329_331delinsGCCG	ENSP00000338009.5:p.Pro110ArgfsTer27
ENST00000345378.7:c.1298_1300delinsGCCG	ENSP00000223366.2:p.Pro433ArgfsTer27
ENST00000403799.8:c.1295_1297delinsGCCG MANE Select	ENSP00000384247.3:p.Pro432ArgfsTer27
ENST00000671824.1:c.1358_1360delinsGCCG	ENSP00000500264.1:p.Pro453ArgfsTer27
ENST00000672743.1:n.307_309delinsGCCG
ENST00000673284.1:c.1295_1297delinsGCCG	ENSP00000499852.1:p.Pro432ArgfsTer?
ENST00000336642.8:c.347_349delinsGCCG	ENSP00000338009.4:p.Pro116ArgfsTer27
ENST00000345378.6:c.1298_1300delinsGCCG	ENSP00000223366.2:p.Pro433ArgfsTer27
ENST00000395796.7:c.1292_1294delinsGCCG	ENSP00000379142.3:p.Pro431ArgfsTer27
ENST00000403799.7:c.1295_1297delinsGCCG	ENSP00000384247.3:p.Pro432ArgfsTer27
ENST00000437084.1:c.1244_1246delinsGCCG	ENSP00000402840.1:p.Pro415ArgfsTer27
ENST00000459642.1:n.675_677delinsGCCG
ENST00000616242.4:c.1292_1294delinsGCCG	ENSP00000482149.1:p.Pro431ArgfsTer27
NM_000162.3:c.1295_1297delinsGCCG	NP_000153.1:p.Pro432ArgfsTer27
NM_033507.1:c.1298_1300delinsGCCG	NP_277042.1:p.Pro433ArgfsTer27
NM_033508.1:c.1292_1294delinsGCCG	NP_277043.1:p.Pro431ArgfsTer27
NM_000162.4:c.1295_1297delinsGCCG	NP_000153.1:p.Pro432ArgfsTer27
NM_001354800.1:c.1295_1297delinsGCCG	NP_001341729.1:p.Pro432ArgfsTer?
NM_001354801.1:c.284_286delinsGCCG	NP_001341730.1:p.Pro95ArgfsTer27
NM_001354802.1:c.155_157delinsGCCG	NP_001341731.1:p.Pro52ArgfsTer?
NM_001354803.1:c.329_331delinsGCCG	NP_001341732.1:p.Pro110ArgfsTer27
NM_033507.2:c.1298_1300delinsGCCG	NP_277042.1:p.Pro433ArgfsTer27
NM_033508.2:c.1292_1294delinsGCCG	NP_277043.1:p.Pro431ArgfsTer27
XM_024446707.1:c.155_157delinsGCCG	XP_024302475.1:p.Pro52ArgfsTer27
NM_000162.5:c.1295_1297delinsGCCG MANE Select	NP_000153.1:p.Pro432ArgfsTer27
NM_033507.3:c.1298_1300delinsGCCG	NP_277042.1:p.Pro433ArgfsTer27
NM_033508.3:c.1292_1294delinsGCCG	NP_277043.1:p.Pro431ArgfsTer27
NM_001354803.2:c.329_331delinsGCCG	NP_001341732.1:p.Pro110ArgfsTer27