Canonical Allele Identifier: CA2573142148

Gene: GCK

Linked Data

• ClinVar Variation Id: 1427283
• ClinVar RCV Id: RCV001945880
• dbSNP Id: rs2128822668

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152327del , CM000669.2:g.44152327del	GRCh38
NC_000007.13:g.44191926del , CM000669.1:g.44191926del	GRCh37
NC_000007.12:g.44158451del	NCBI36
NG_008847.1:g.42097del
NG_008847.2:g.50844del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*305del	ENSP00000379142.4:n.*305del
ENST00000616242.5:c.307del	ENSP00000482149.2:p.Thr103ProfsTer13
ENST00000682635.1:n.793del
ENST00000345378.7:c.310del	ENSP00000223366.2:p.Thr104ProfsTer13
ENST00000403799.8:c.307del MANE Select	ENSP00000384247.3:p.Thr103ProfsTer13
ENST00000671824.1:c.307del	ENSP00000500264.1:p.Thr103ProfsTer13
ENST00000673284.1:c.307del	ENSP00000499852.1:p.Thr103ProfsTer13
ENST00000345378.6:c.310del	ENSP00000223366.2:p.Thr104ProfsTer13
ENST00000395796.7:c.304del	ENSP00000379142.3:p.Thr102ProfsTer13
ENST00000403799.7:c.307del	ENSP00000384247.3:p.Thr103ProfsTer13
ENST00000437084.1:c.307del	ENSP00000402840.1:p.Thr103ProfsTer13
ENST00000616242.4:c.304del	ENSP00000482149.1:p.Thr102ProfsTer13
NM_000162.3:c.307del	NP_000153.1:p.Thr103ProfsTer13
NM_033507.1:c.310del	NP_277042.1:p.Thr104ProfsTer13
NM_033508.1:c.304del	NP_277043.1:p.Thr102ProfsTer13
NM_000162.4:c.307del	NP_000153.1:p.Thr103ProfsTer13
NM_001354800.1:c.307del	NP_001341729.1:p.Thr103ProfsTer13
NM_033507.2:c.310del	NP_277042.1:p.Thr104ProfsTer13
NM_033508.2:c.304del	NP_277043.1:p.Thr102ProfsTer13
NM_000162.5:c.307del MANE Select	NP_000153.1:p.Thr103ProfsTer13
NM_033507.3:c.310del	NP_277042.1:p.Thr104ProfsTer13
NM_033508.3:c.304del	NP_277043.1:p.Thr102ProfsTer13