Canonical Allele Identifier: CA2573106063

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571653
• ClinVar RCV Id: RCV003313363
• ERepo: CA2573106063/MONDO:0007453/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145225_44145226del , CM000669.2:g.44145225_44145226del	GRCh38
NC_000007.13:g.44184824_44184825del , CM000669.1:g.44184824_44184825del	GRCh37
NC_000007.12:g.44151349_44151350del	NCBI36
NG_008847.1:g.49199_49200del
NG_008847.2:g.57946_57947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1307_*1308del	ENSP00000379142.4:n.*1307_*1308del
ENST00000616242.5:c.*429_*430del	ENSP00000482149.2:n.*429_*430del
ENST00000683378.1:n.535_536del
ENST00000336642.9:c.343_344del	ENSP00000338009.5:p.Thr115LeufsTer21
ENST00000345378.7:c.1312_1313del	ENSP00000223366.2:p.Thr438LeufsTer21
ENST00000403799.8:c.1309_1310del MANE Select	ENSP00000384247.3:p.Thr437LeufsTer21
ENST00000671824.1:c.1372_1373del	ENSP00000500264.1:p.Thr458LeufsTer21
ENST00000672743.1:n.321_322del
ENST00000673284.1:c.1309_1310del	ENSP00000499852.1:p.Thr437LeufsTer?
ENST00000336642.8:c.361_362del	ENSP00000338009.4:p.Thr121LeufsTer21
ENST00000345378.6:c.1312_1313del	ENSP00000223366.2:p.Thr438LeufsTer21
ENST00000395796.7:c.1306_1307del	ENSP00000379142.3:p.Thr436LeufsTer21
ENST00000403799.7:c.1309_1310del	ENSP00000384247.3:p.Thr437LeufsTer21
ENST00000437084.1:c.1258_1259del	ENSP00000402840.1:p.Thr420LeufsTer21
ENST00000459642.1:n.689_690del
ENST00000616242.4:c.1306_1307del	ENSP00000482149.1:p.Thr436LeufsTer21
NM_000162.3:c.1309_1310del	NP_000153.1:p.Thr437LeufsTer21
NM_033507.1:c.1312_1313del	NP_277042.1:p.Thr438LeufsTer21
NM_033508.1:c.1306_1307del	NP_277043.1:p.Thr436LeufsTer21
NM_000162.4:c.1309_1310del	NP_000153.1:p.Thr437LeufsTer21
NM_001354800.1:c.1309_1310del	NP_001341729.1:p.Thr437LeufsTer?
NM_001354801.1:c.298_299del	NP_001341730.1:p.Thr100LeufsTer21
NM_001354802.1:c.169_170del	NP_001341731.1:p.Thr57LeufsTer?
NM_001354803.1:c.343_344del	NP_001341732.1:p.Thr115LeufsTer21
NM_033507.2:c.1312_1313del	NP_277042.1:p.Thr438LeufsTer21
NM_033508.2:c.1306_1307del	NP_277043.1:p.Thr436LeufsTer21
XM_024446707.1:c.169_170del	XP_024302475.1:p.Thr57LeufsTer21
NM_000162.5:c.1309_1310del MANE Select	NP_000153.1:p.Thr437LeufsTer21
NM_033507.3:c.1312_1313del	NP_277042.1:p.Thr438LeufsTer21
NM_033508.3:c.1306_1307del	NP_277043.1:p.Thr436LeufsTer21
NM_001354803.2:c.343_344del	NP_001341732.1:p.Thr115LeufsTer21