Canonical Allele Identifier: CA2695203090

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147722_44147723dup , CM000669.2:g.44147722_44147723dup	GRCh38
NC_000007.13:g.44187321_44187322dup , CM000669.1:g.44187321_44187322dup	GRCh37
NC_000007.12:g.44153846_44153847dup	NCBI36
NG_008847.1:g.46701_46702dup
NG_008847.2:g.55448_55449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*788_*789dup	ENSP00000379142.4:n.*788_*789dup
ENST00000616242.5:c.790_791dup	ENSP00000482149.2:p.Glu265AlafsTer23
ENST00000345378.7:c.793_794dup	ENSP00000223366.2:p.Glu266AlafsTer30
ENST00000403799.8:c.790_791dup MANE Select	ENSP00000384247.3:p.Glu265AlafsTer30
ENST00000671824.1:c.790_791dup	ENSP00000500264.1:p.Glu265AlafsTer?
ENST00000673284.1:c.790_791dup	ENSP00000499852.1:p.Glu265AlafsTer30
ENST00000345378.6:c.793_794dup	ENSP00000223366.2:p.Glu266AlafsTer30
ENST00000395796.7:c.787_788dup	ENSP00000379142.3:p.Glu264AlafsTer30
ENST00000403799.7:c.790_791dup	ENSP00000384247.3:p.Glu265AlafsTer30
ENST00000437084.1:c.739_740dup	ENSP00000402840.1:p.Glu248AlafsTer30
ENST00000616242.4:c.787_788dup	ENSP00000482149.1:p.Glu264AlafsTer30
NM_000162.3:c.790_791dup	NP_000153.1:p.Glu265AlafsTer30
NM_033507.1:c.793_794dup	NP_277042.1:p.Glu266AlafsTer30
NM_033508.1:c.787_788dup	NP_277043.1:p.Glu264AlafsTer30
XR_927223.1:n.56_57dup
NM_000162.4:c.790_791dup	NP_000153.1:p.Glu265AlafsTer30
NM_001354800.1:c.790_791dup	NP_001341729.1:p.Glu265AlafsTer30
NM_033507.2:c.793_794dup	NP_277042.1:p.Glu266AlafsTer30
NM_033508.2:c.787_788dup	NP_277043.1:p.Glu264AlafsTer30
XR_927223.2:n.56_57dup
NM_000162.5:c.790_791dup MANE Select	NP_000153.1:p.Glu265AlafsTer30
NM_033507.3:c.793_794dup	NP_277042.1:p.Glu266AlafsTer30
NM_033508.3:c.787_788dup	NP_277043.1:p.Glu264AlafsTer30