Canonical Allele Identifier: CA2695203046

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145639_44145643dup , CM000669.2:g.44145639_44145643dup	GRCh38
NC_000007.13:g.44185238_44185242dup , CM000669.1:g.44185238_44185242dup	GRCh37
NC_000007.12:g.44151763_44151767dup	NCBI36
NG_008847.1:g.48781_48785dup
NG_008847.2:g.57528_57532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1105_*1109dup	ENSP00000379142.4:n.*1105_*1109dup
ENST00000616242.5:c.*227_*231dup	ENSP00000482149.2:n.*227_*231dup
ENST00000683378.1:n.333_337dup
ENST00000336642.9:c.141_145dup	ENSP00000338009.5:p.Cys49SerfsTer?
ENST00000345378.7:c.1110_1114dup	ENSP00000223366.2:p.Cys372SerfsTer?
ENST00000403799.8:c.1107_1111dup MANE Select	ENSP00000384247.3:p.Cys371SerfsTer?
ENST00000671824.1:c.1170_1174dup	ENSP00000500264.1:p.Cys392SerfsTer?
ENST00000672743.1:n.119_123dup
ENST00000673284.1:c.1107_1111dup	ENSP00000499852.1:p.Cys371SerfsTer?
ENST00000336642.8:c.159_163dup	ENSP00000338009.4:p.Cys55SerfsTer?
ENST00000345378.6:c.1110_1114dup	ENSP00000223366.2:p.Cys372SerfsTer?
ENST00000395796.7:c.1104_1108dup	ENSP00000379142.3:p.Cys370SerfsTer?
ENST00000403799.7:c.1107_1111dup	ENSP00000384247.3:p.Cys371SerfsTer?
ENST00000437084.1:c.1056_1060dup	ENSP00000402840.1:p.Cys354SerfsTer?
ENST00000459642.1:n.487_491dup
ENST00000616242.4:c.1104_1108dup	ENSP00000482149.1:p.Cys370SerfsTer?
NM_000162.3:c.1107_1111dup	NP_000153.1:p.Cys371SerfsTer?
NM_033507.1:c.1110_1114dup	NP_277042.1:p.Cys372SerfsTer?
NM_033508.1:c.1104_1108dup	NP_277043.1:p.Cys370SerfsTer?
NM_000162.4:c.1107_1111dup	NP_000153.1:p.Cys371SerfsTer?
NM_001354800.1:c.1107_1111dup	NP_001341729.1:p.Cys371SerfsTer?
NM_001354801.1:c.96_100dup	NP_001341730.1:p.Cys34SerfsTer?
NM_001354802.1:c.-34_-30dup	NP_001341731.1:n.-34_-30dup
NM_001354803.1:c.141_145dup	NP_001341732.1:p.Cys49SerfsTer?
NM_033507.2:c.1110_1114dup	NP_277042.1:p.Cys372SerfsTer?
NM_033508.2:c.1104_1108dup	NP_277043.1:p.Cys370SerfsTer?
XM_024446707.1:c.-34_-30dup	XP_024302475.1:n.-34_-30dup
NM_000162.5:c.1107_1111dup MANE Select	NP_000153.1:p.Cys371SerfsTer?
NM_033507.3:c.1110_1114dup	NP_277042.1:p.Cys372SerfsTer?
NM_033508.3:c.1104_1108dup	NP_277043.1:p.Cys370SerfsTer?
NM_001354803.2:c.141_145dup	NP_001341732.1:p.Cys49SerfsTer?