Canonical Allele Identifier: CA2017997779

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571663
• ClinVar RCV Id: RCV003313373
• ERepo: CA2017997779/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145167del , CM000669.2:g.44145167del	GRCh38
NC_000007.13:g.44184766del , CM000669.1:g.44184766del	GRCh37
NC_000007.12:g.44151291del	NCBI36
NG_008847.1:g.49258del
NG_008847.2:g.58005del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1366del	ENSP00000379142.4:n.*1366del
ENST00000616242.5:c.*488del	ENSP00000482149.2:n.*488del
ENST00000683378.1:n.594del
ENST00000336642.9:c.402del	ENSP00000338009.5:p.Cys135ValfsTer?
ENST00000345378.7:c.1371del	ENSP00000223366.2:p.Cys458ValfsTer?
ENST00000403799.8:c.1368del MANE Select	ENSP00000384247.3:p.Cys457ValfsTer?
ENST00000671824.1:c.1431del	ENSP00000500264.1:p.Cys478ValfsTer?
ENST00000672743.1:n.380del
ENST00000673284.1:c.1368del	ENSP00000499852.1:p.Ter457AspextTer7
ENST00000336642.8:c.420del	ENSP00000338009.4:p.Cys141ValfsTer?
ENST00000345378.6:c.1371del	ENSP00000223366.2:p.Cys458ValfsTer?
ENST00000395796.7:c.1365del	ENSP00000379142.3:p.Cys456ValfsTer?
ENST00000403799.7:c.1368del	ENSP00000384247.3:p.Cys457ValfsTer?
ENST00000437084.1:c.1317del	ENSP00000402840.1:p.Cys440ValfsTer?
ENST00000459642.1:n.748del
ENST00000616242.4:c.1365del	ENSP00000482149.1:p.Cys456ValfsTer?
NM_000162.3:c.1368del	NP_000153.1:p.Cys457ValfsTer?
NM_033507.1:c.1371del	NP_277042.1:p.Cys458ValfsTer?
NM_033508.1:c.1365del	NP_277043.1:p.Cys456ValfsTer?
NM_000162.4:c.1368del	NP_000153.1:p.Cys457ValfsTer?
NM_001354800.1:c.1368del	NP_001341729.1:p.Ter457AspextTer7
NM_001354801.1:c.357del	NP_001341730.1:p.Cys120ValfsTer?
NM_001354802.1:c.228del	NP_001341731.1:p.Ter77AspextTer7
NM_001354803.1:c.402del	NP_001341732.1:p.Cys135ValfsTer?
NM_033507.2:c.1371del	NP_277042.1:p.Cys458ValfsTer?
NM_033508.2:c.1365del	NP_277043.1:p.Cys456ValfsTer?
XM_024446707.1:c.228del	XP_024302475.1:p.Cys77ValfsTer?
NM_000162.5:c.1368del MANE Select	NP_000153.1:p.Cys457ValfsTer?
NM_033507.3:c.1371del	NP_277042.1:p.Cys458ValfsTer?
NM_033508.3:c.1365del	NP_277043.1:p.Cys456ValfsTer?
NM_001354803.2:c.402del	NP_001341732.1:p.Cys135ValfsTer?