Canonical Allele Identifier: CA2682581380
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145566-TCGCG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145568_44145571del , CM000669.2:g.44145568_44145571del GRCh38
NC_000007.13:g.44185167_44185170del , CM000669.1:g.44185167_44185170del GRCh37
NC_000007.12:g.44151692_44151695del NCBI36
NG_008847.1:g.48854_48857del
NG_008847.2:g.57601_57604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1178_*1181del ENSP00000379142.4:n.*1178_*1181del
ENST00000616242.5:c.*300_*303del ENSP00000482149.2:n.*300_*303del
ENST00000683378.1:n.406_409del
ENST00000336642.9:c.214_217del ENSP00000338009.5:p.Glu73AlafsTer6
ENST00000345378.7:c.1183_1186del ENSP00000223366.2:p.Glu396AlafsTer6
ENST00000403799.8:c.1180_1183del MANE Select ENSP00000384247.3:p.Glu395AlafsTer6
ENST00000671824.1:c.1243_1246del ENSP00000500264.1:p.Glu416AlafsTer6
ENST00000672743.1:n.192_195del
ENST00000673284.1:c.1180_1183del ENSP00000499852.1:p.Glu395AlafsTer6
ENST00000336642.8:c.232_235del ENSP00000338009.4:p.Glu79AlafsTer6
ENST00000345378.6:c.1183_1186del ENSP00000223366.2:p.Glu396AlafsTer6
ENST00000395796.7:c.1177_1180del ENSP00000379142.3:p.Glu394AlafsTer6
ENST00000403799.7:c.1180_1183del ENSP00000384247.3:p.Glu395AlafsTer6
ENST00000437084.1:c.1129_1132del ENSP00000402840.1:p.Glu378AlafsTer6
ENST00000459642.1:n.560_563del
ENST00000616242.4:c.1177_1180del ENSP00000482149.1:p.Glu394AlafsTer6
NM_000162.3:c.1180_1183del NP_000153.1:p.Glu395AlafsTer6
NM_033507.1:c.1183_1186del NP_277042.1:p.Glu396AlafsTer6
NM_033508.1:c.1177_1180del NP_277043.1:p.Glu394AlafsTer6
NM_000162.4:c.1180_1183del NP_000153.1:p.Glu395AlafsTer6
NM_001354800.1:c.1180_1183del NP_001341729.1:p.Glu395AlafsTer6
NM_001354801.1:c.169_172del NP_001341730.1:p.Glu58AlafsTer6
NM_001354802.1:c.40_43del NP_001341731.1:p.Glu15AlafsTer6
NM_001354803.1:c.214_217del NP_001341732.1:p.Glu73AlafsTer6
NM_033507.2:c.1183_1186del NP_277042.1:p.Glu396AlafsTer6
NM_033508.2:c.1177_1180del NP_277043.1:p.Glu394AlafsTer6
XM_024446707.1:c.40_43del XP_024302475.1:p.Glu15AlafsTer6
NM_000162.5:c.1180_1183del MANE Select NP_000153.1:p.Glu395AlafsTer6
NM_033507.3:c.1183_1186del NP_277042.1:p.Glu396AlafsTer6
NM_033508.3:c.1177_1180del NP_277043.1:p.Glu394AlafsTer6
NM_001354803.2:c.214_217del NP_001341732.1:p.Glu73AlafsTer6
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