Canonical Allele Identifier: CA2018007672

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571657
• ClinVar RCV Id: RCV003313367
• ERepo: CA2018007672/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145274del , CM000669.2:g.44145274del	GRCh38
NC_000007.13:g.44184873del , CM000669.1:g.44184873del	GRCh37
NC_000007.12:g.44151398del	NCBI36
NG_008847.1:g.49151del
NG_008847.2:g.57898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1259del	ENSP00000379142.4:n.*1259del
ENST00000616242.5:c.*381del	ENSP00000482149.2:n.*381del
ENST00000683378.1:n.487del
ENST00000336642.9:c.295del	ENSP00000338009.5:p.Glu99SerfsTer10
ENST00000345378.7:c.1264del	ENSP00000223366.2:p.Glu422SerfsTer10
ENST00000403799.8:c.1261del MANE Select	ENSP00000384247.3:p.Glu421SerfsTer10
ENST00000671824.1:c.1324del	ENSP00000500264.1:p.Glu442SerfsTer10
ENST00000672743.1:n.273del
ENST00000673284.1:c.1261del	ENSP00000499852.1:p.Glu421SerfsTer10
ENST00000336642.8:c.313del	ENSP00000338009.4:p.Glu105SerfsTer10
ENST00000345378.6:c.1264del	ENSP00000223366.2:p.Glu422SerfsTer10
ENST00000395796.7:c.1258del	ENSP00000379142.3:p.Glu420SerfsTer10
ENST00000403799.7:c.1261del	ENSP00000384247.3:p.Glu421SerfsTer10
ENST00000437084.1:c.1210del	ENSP00000402840.1:p.Glu404SerfsTer10
ENST00000459642.1:n.641del
ENST00000616242.4:c.1258del	ENSP00000482149.1:p.Glu420SerfsTer10
NM_000162.3:c.1261del	NP_000153.1:p.Glu421SerfsTer10
NM_033507.1:c.1264del	NP_277042.1:p.Glu422SerfsTer10
NM_033508.1:c.1258del	NP_277043.1:p.Glu420SerfsTer10
NM_000162.4:c.1261del	NP_000153.1:p.Glu421SerfsTer10
NM_001354800.1:c.1261del	NP_001341729.1:p.Glu421SerfsTer10
NM_001354801.1:c.250del	NP_001341730.1:p.Glu84SerfsTer10
NM_001354802.1:c.121del	NP_001341731.1:p.Glu41SerfsTer10
NM_001354803.1:c.295del	NP_001341732.1:p.Glu99SerfsTer10
NM_033507.2:c.1264del	NP_277042.1:p.Glu422SerfsTer10
NM_033508.2:c.1258del	NP_277043.1:p.Glu420SerfsTer10
XM_024446707.1:c.121del	XP_024302475.1:p.Glu41SerfsTer10
NM_000162.5:c.1261del MANE Select	NP_000153.1:p.Glu421SerfsTer10
NM_033507.3:c.1264del	NP_277042.1:p.Glu422SerfsTer10
NM_033508.3:c.1258del	NP_277043.1:p.Glu420SerfsTer10
NM_001354803.2:c.295del	NP_001341732.1:p.Glu99SerfsTer10