Canonical Allele Identifier: CA2017997775

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571648
• ClinVar RCV Id: RCV003313358
• ERepo: CA2017997775/MONDO:0015967/086

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1341del	ENSP00000379142.4:n.*1341del
ENST00000616242.5:c.*463del	ENSP00000482149.2:n.*463del
ENST00000683378.1:n.569del
ENST00000336642.9:c.377del	ENSP00000338009.5:p.Gly126AlafsTer?
ENST00000345378.7:c.1346del	ENSP00000223366.2:p.Gly449AlafsTer?
ENST00000403799.8:c.1343del MANE Select	ENSP00000384247.3:p.Gly448AlafsTer?
ENST00000671824.1:c.1406del	ENSP00000500264.1:p.Gly469AlafsTer?
ENST00000672743.1:n.355del
ENST00000673284.1:c.1343del	ENSP00000499852.1:p.Gly448AlafsTer16
ENST00000336642.8:c.395del	ENSP00000338009.4:p.Gly132AlafsTer?
ENST00000345378.6:c.1346del	ENSP00000223366.2:p.Gly449AlafsTer?
ENST00000395796.7:c.1340del	ENSP00000379142.3:p.Gly447AlafsTer?
ENST00000403799.7:c.1343del	ENSP00000384247.3:p.Gly448AlafsTer?
ENST00000437084.1:c.1292del	ENSP00000402840.1:p.Gly431AlafsTer?
ENST00000459642.1:n.723del
ENST00000616242.4:c.1340del	ENSP00000482149.1:p.Gly447AlafsTer?
NM_000162.3:c.1343del	NP_000153.1:p.Gly448AlafsTer?
NM_033507.1:c.1346del	NP_277042.1:p.Gly449AlafsTer?
NM_033508.1:c.1340del	NP_277043.1:p.Gly447AlafsTer?
NM_000162.4:c.1343del	NP_000153.1:p.Gly448AlafsTer?
NM_001354800.1:c.1343del	NP_001341729.1:p.Gly448AlafsTer16
NM_001354801.1:c.332del	NP_001341730.1:p.Gly111AlafsTer?
NM_001354802.1:c.203del	NP_001341731.1:p.Gly68AlafsTer16
NM_001354803.1:c.377del	NP_001341732.1:p.Gly126AlafsTer?
NM_033507.2:c.1346del	NP_277042.1:p.Gly449AlafsTer?
NM_033508.2:c.1340del	NP_277043.1:p.Gly447AlafsTer?
XM_024446707.1:c.203del	XP_024302475.1:p.Gly68AlafsTer?
NM_000162.5:c.1343del MANE Select	NP_000153.1:p.Gly448AlafsTer?
NM_033507.3:c.1346del	NP_277042.1:p.Gly449AlafsTer?
NM_033508.3:c.1340del	NP_277043.1:p.Gly447AlafsTer?
NM_001354803.2:c.377del	NP_001341732.1:p.Gly126AlafsTer?