Canonical Allele Identifier: CA2017997780

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571662
• ClinVar RCV Id: RCV003313372
• ERepo: CA2017997780/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145158_44145169del , CM000669.2:g.44145158_44145169del	GRCh38
NC_000007.13:g.44184757_44184768del , CM000669.1:g.44184757_44184768del	GRCh37
NC_000007.12:g.44151282_44151293del	NCBI36
NG_008847.1:g.49263_49274del
NG_008847.2:g.58010_58021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1371_*1382del	ENSP00000379142.4:n.*1371_*1382del
ENST00000616242.5:c.*493_*504del	ENSP00000482149.2:n.*493_*504del
ENST00000683378.1:n.599_610del
ENST00000336642.9:c.407_418del	ENSP00000338009.5:p.Lys136_Cys139del
ENST00000345378.7:c.1376_1387del	ENSP00000223366.2:p.Lys459_Cys462del
ENST00000403799.8:c.1373_1384del MANE Select	ENSP00000384247.3:p.Lys458_Cys461del
ENST00000671824.1:c.1436_1447del	ENSP00000500264.1:p.Lys479_Cys482del
ENST00000672743.1:n.381+4_381+15del
ENST00000673284.1:c.1369+4_1369+15del
ENST00000336642.8:c.425_436del	ENSP00000338009.4:p.Lys142_Cys145del
ENST00000345378.6:c.1376_1387del	ENSP00000223366.2:p.Lys459_Cys462del
ENST00000395796.7:c.1370_1381del	ENSP00000379142.3:p.Lys457_Cys460del
ENST00000403799.7:c.1373_1384del	ENSP00000384247.3:p.Lys458_Cys461del
ENST00000437084.1:c.1322_1333del	ENSP00000402840.1:p.Lys441_Cys444del
ENST00000459642.1:n.753_764del
ENST00000616242.4:c.1370_1381del	ENSP00000482149.1:p.Lys457_Cys460del
NM_000162.3:c.1373_1384del	NP_000153.1:p.Lys458_Cys461del
NM_033507.1:c.1376_1387del	NP_277042.1:p.Lys459_Cys462del
NM_033508.1:c.1370_1381del	NP_277043.1:p.Lys457_Cys460del
NM_000162.4:c.1373_1384del	NP_000153.1:p.Lys458_Cys461del
NM_001354800.1:c.1369+4_1369+15del
NM_001354801.1:c.362_373del	NP_001341730.1:p.Lys121_Cys124del
NM_001354802.1:c.229+4_229+15del
NM_001354803.1:c.407_418del	NP_001341732.1:p.Lys136_Cys139del
NM_033507.2:c.1376_1387del	NP_277042.1:p.Lys459_Cys462del
NM_033508.2:c.1370_1381del	NP_277043.1:p.Lys457_Cys460del
XM_024446707.1:c.233_244del	XP_024302475.1:p.Lys78_Cys81del
NM_000162.5:c.1373_1384del MANE Select	NP_000153.1:p.Lys458_Cys461del
NM_033507.3:c.1376_1387del	NP_277042.1:p.Lys459_Cys462del
NM_033508.3:c.1370_1381del	NP_277043.1:p.Lys457_Cys460del
NM_001354803.2:c.407_418del	NP_001341732.1:p.Lys136_Cys139del