Canonical Allele Identifier: CA2573102979

Gene: GCK

Linked Data

• ClinVar Variation Id: 2574159
• ClinVar RCV Id: RCV003318524
• ERepo: CA2573102979/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145159_44145162del , CM000669.2:g.44145159_44145162del	GRCh38
NC_000007.13:g.44184758_44184761del , CM000669.1:g.44184758_44184761del	GRCh37
NC_000007.12:g.44151283_44151286del	NCBI36
NG_008847.1:g.49263_49266del
NG_008847.2:g.58010_58013del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1371_*1374del	ENSP00000379142.4:n.*1371_*1374del
ENST00000616242.5:c.*493_*496del	ENSP00000482149.2:n.*493_*496del
ENST00000683378.1:n.599_602del
ENST00000336642.9:c.407_410del	ENSP00000338009.5:p.Lys136ArgfsTer?
ENST00000345378.7:c.1376_1379del	ENSP00000223366.2:p.Lys459ArgfsTer?
ENST00000403799.8:c.1373_1376del MANE Select	ENSP00000384247.3:p.Lys458ArgfsTer?
ENST00000671824.1:c.1436_1439del	ENSP00000500264.1:p.Lys479ArgfsTer?
ENST00000672743.1:n.381+4_381+7del
ENST00000673284.1:c.1369+4_1369+7del	ENSP00000499852.1:n.1369+4_1369+7del
ENST00000336642.8:c.425_428del	ENSP00000338009.4:p.Lys142ArgfsTer?
ENST00000345378.6:c.1376_1379del	ENSP00000223366.2:p.Lys459ArgfsTer?
ENST00000395796.7:c.1370_1373del	ENSP00000379142.3:p.Lys457ArgfsTer?
ENST00000403799.7:c.1373_1376del	ENSP00000384247.3:p.Lys458ArgfsTer?
ENST00000437084.1:c.1322_1325del	ENSP00000402840.1:p.Lys441ArgfsTer?
ENST00000459642.1:n.753_756del
ENST00000616242.4:c.1370_1373del	ENSP00000482149.1:p.Lys457ArgfsTer?
NM_000162.3:c.1373_1376del	NP_000153.1:p.Lys458ArgfsTer?
NM_033507.1:c.1376_1379del	NP_277042.1:p.Lys459ArgfsTer?
NM_033508.1:c.1370_1373del	NP_277043.1:p.Lys457ArgfsTer?
NM_000162.4:c.1373_1376del	NP_000153.1:p.Lys458ArgfsTer?
NM_001354800.1:c.1369+4_1369+7del	NP_001341729.1:n.1369+4_1369+7del
NM_001354801.1:c.362_365del	NP_001341730.1:p.Lys121ArgfsTer?
NM_001354802.1:c.229+4_229+7del	NP_001341731.1:n.229+4_229+7del
NM_001354803.1:c.407_410del	NP_001341732.1:p.Lys136ArgfsTer?
NM_033507.2:c.1376_1379del	NP_277042.1:p.Lys459ArgfsTer?
NM_033508.2:c.1370_1373del	NP_277043.1:p.Lys457ArgfsTer?
XM_024446707.1:c.233_236del	XP_024302475.1:p.Lys78ArgfsTer?
NM_000162.5:c.1373_1376del MANE Select	NP_000153.1:p.Lys458ArgfsTer?
NM_033507.3:c.1376_1379del	NP_277042.1:p.Lys459ArgfsTer?
NM_033508.3:c.1370_1373del	NP_277043.1:p.Lys457ArgfsTer?
NM_001354803.2:c.407_410del	NP_001341732.1:p.Lys136ArgfsTer?