Canonical Allele Identifier: CA2695203059

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146468del , CM000669.2:g.44146468del	GRCh38
NC_000007.13:g.44186067del , CM000669.1:g.44186067del	GRCh37
NC_000007.12:g.44152592del	NCBI36
NG_008847.1:g.47957del
NG_008847.2:g.56704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1013del	ENSP00000379142.4:n.*1013del
ENST00000616242.5:c.*135del	ENSP00000482149.2:n.*135del
ENST00000683378.1:n.241del
ENST00000345378.7:c.1018del	ENSP00000223366.2:p.Glu340ArgfsTer14
ENST00000403799.8:c.1015del MANE Select	ENSP00000384247.3:p.Glu339ArgfsTer14
ENST00000671824.1:c.1078del	ENSP00000500264.1:p.Glu360ArgfsTer14
ENST00000673284.1:c.1015del	ENSP00000499852.1:p.Glu339ArgfsTer14
ENST00000345378.6:c.1018del	ENSP00000223366.2:p.Glu340ArgfsTer14
ENST00000395796.7:c.1012del	ENSP00000379142.3:p.Glu338ArgfsTer14
ENST00000403799.7:c.1015del	ENSP00000384247.3:p.Glu339ArgfsTer14
ENST00000437084.1:c.964del	ENSP00000402840.1:p.Glu322ArgfsTer14
ENST00000473353.1:n.313del
ENST00000616242.4:c.1012del	ENSP00000482149.1:p.Glu338ArgfsTer14
NM_000162.3:c.1015del	NP_000153.1:p.Glu339ArgfsTer14
NM_033507.1:c.1018del	NP_277042.1:p.Glu340ArgfsTer14
NM_033508.1:c.1012del	NP_277043.1:p.Glu338ArgfsTer14
NM_000162.4:c.1015del	NP_000153.1:p.Glu339ArgfsTer14
NM_001354800.1:c.1015del	NP_001341729.1:p.Glu339ArgfsTer14
NM_001354801.1:c.8+152del	NP_001341730.1:n.8+152del
NM_033507.2:c.1018del	NP_277042.1:p.Glu340ArgfsTer14
NM_033508.2:c.1012del	NP_277043.1:p.Glu338ArgfsTer14
NM_000162.5:c.1015del MANE Select	NP_000153.1:p.Glu339ArgfsTer14
NM_033507.3:c.1018del	NP_277042.1:p.Glu340ArgfsTer14
NM_033508.3:c.1012del	NP_277043.1:p.Glu338ArgfsTer14