Canonical Allele Identifier: CA1139771342

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571645
• ClinVar RCV Id: RCV003313355
• ERepo: CA1139771342/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145261_44145269delinsATGAAGGTGGCTCGCA , CM000669.2:g.44145261_44145269delinsATGAAGGTGGCTCGCA	GRCh38
NC_000007.13:g.44184860_44184868delinsATGAAGGTGGCTCGCA , CM000669.1:g.44184860_44184868delinsATGAAGGTGGCTCGCA	GRCh37
NC_000007.12:g.44151385_44151393delinsATGAAGGTGGCTCGCA	NCBI36
NG_008847.1:g.49155_49163delinsTGCGAGCCACCTTCAT
NG_008847.2:g.57902_57910delinsTGCGAGCCACCTTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1263_*1271delinsTGCGAGCCACCTTCAT	ENSP00000379142.4:n.*1263_*1271delinsTGCGAGCCACCTTCAT
ENST00000616242.5:c.*385_*393delinsTGCGAGCCACCTTCAT	ENSP00000482149.2:n.*385_*393delinsTGCGAGCCACCTTCAT
ENST00000683378.1:n.491_499delinsTGCGAGCCACCTTCAT
ENST00000336642.9:c.299_307delinsTGCGAGCCACCTTCAT	ENSP00000338009.5:p.Arg100LeufsTer?
ENST00000345378.7:c.1268_1276delinsTGCGAGCCACCTTCAT	ENSP00000223366.2:p.Arg423LeufsTer?
ENST00000403799.8:c.1265_1273delinsTGCGAGCCACCTTCAT MANE Select	ENSP00000384247.3:p.Arg422LeufsTer?
ENST00000671824.1:c.1328_1336delinsTGCGAGCCACCTTCAT	ENSP00000500264.1:p.Arg443LeufsTer?
ENST00000672743.1:n.277_285delinsTGCGAGCCACCTTCAT
ENST00000673284.1:c.1265_1273delinsTGCGAGCCACCTTCAT	ENSP00000499852.1:p.Arg422LeufsTer?
ENST00000336642.8:c.317_325delinsTGCGAGCCACCTTCAT	ENSP00000338009.4:p.Arg106LeufsTer?
ENST00000345378.6:c.1268_1276delinsTGCGAGCCACCTTCAT	ENSP00000223366.2:p.Arg423LeufsTer?
ENST00000395796.7:c.1262_1270delinsTGCGAGCCACCTTCAT	ENSP00000379142.3:p.Arg421LeufsTer?
ENST00000403799.7:c.1265_1273delinsTGCGAGCCACCTTCAT	ENSP00000384247.3:p.Arg422LeufsTer?
ENST00000437084.1:c.1214_1222delinsTGCGAGCCACCTTCAT	ENSP00000402840.1:p.Arg405LeufsTer?
ENST00000459642.1:n.645_653delinsTGCGAGCCACCTTCAT
ENST00000616242.4:c.1262_1270delinsTGCGAGCCACCTTCAT	ENSP00000482149.1:p.Arg421LeufsTer?
NM_000162.3:c.1265_1273delinsTGCGAGCCACCTTCAT	NP_000153.1:p.Arg422LeufsTer?
NM_033507.1:c.1268_1276delinsTGCGAGCCACCTTCAT	NP_277042.1:p.Arg423LeufsTer?
NM_033508.1:c.1262_1270delinsTGCGAGCCACCTTCAT	NP_277043.1:p.Arg421LeufsTer?
NM_000162.4:c.1265_1273delinsTGCGAGCCACCTTCAT	NP_000153.1:p.Arg422LeufsTer?
NM_001354800.1:c.1265_1273delinsTGCGAGCCACCTTCAT	NP_001341729.1:p.Arg422LeufsTer?
NM_001354801.1:c.254_262delinsTGCGAGCCACCTTCAT	NP_001341730.1:p.Arg85LeufsTer?
NM_001354802.1:c.125_133delinsTGCGAGCCACCTTCAT	NP_001341731.1:p.Arg42LeufsTer?
NM_001354803.1:c.299_307delinsTGCGAGCCACCTTCAT	NP_001341732.1:p.Arg100LeufsTer?
NM_033507.2:c.1268_1276delinsTGCGAGCCACCTTCAT	NP_277042.1:p.Arg423LeufsTer?
NM_033508.2:c.1262_1270delinsTGCGAGCCACCTTCAT	NP_277043.1:p.Arg421LeufsTer?
XM_024446707.1:c.125_133delinsTGCGAGCCACCTTCAT	XP_024302475.1:p.Arg42LeufsTer?
NM_000162.5:c.1265_1273delinsTGCGAGCCACCTTCAT MANE Select	NP_000153.1:p.Arg422LeufsTer?
NM_033507.3:c.1268_1276delinsTGCGAGCCACCTTCAT	NP_277042.1:p.Arg423LeufsTer?
NM_033508.3:c.1262_1270delinsTGCGAGCCACCTTCAT	NP_277043.1:p.Arg421LeufsTer?
NM_001354803.2:c.299_307delinsTGCGAGCCACCTTCAT	NP_001341732.1:p.Arg100LeufsTer?