Canonical Allele Identifier: CA1703612886
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096271445

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145579del , CM000669.2:g.44145579del GRCh38
NC_000007.13:g.44185178del , CM000669.1:g.44185178del GRCh37
NC_000007.12:g.44151703del NCBI36
NG_008847.1:g.48846del
NG_008847.2:g.57593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1170del ENSP00000379142.4:n.*1170del
ENST00000616242.5:c.*292del ENSP00000482149.2:n.*292del
ENST00000683378.1:n.398del
ENST00000336642.9:c.206del ENSP00000338009.5:p.Asn69ThrfsTer11
ENST00000345378.7:c.1175del ENSP00000223366.2:p.Asn392ThrfsTer11
ENST00000403799.8:c.1172del MANE Select ENSP00000384247.3:p.Asn391ThrfsTer11
ENST00000671824.1:c.1235del ENSP00000500264.1:p.Asn412ThrfsTer11
ENST00000672743.1:n.184del
ENST00000673284.1:c.1172del ENSP00000499852.1:p.Asn391ThrfsTer11
ENST00000336642.8:c.224del ENSP00000338009.4:p.Asn75ThrfsTer11
ENST00000345378.6:c.1175del ENSP00000223366.2:p.Asn392ThrfsTer11
ENST00000395796.7:c.1169del ENSP00000379142.3:p.Asn390ThrfsTer11
ENST00000403799.7:c.1172del ENSP00000384247.3:p.Asn391ThrfsTer11
ENST00000437084.1:c.1121del ENSP00000402840.1:p.Asn374ThrfsTer11
ENST00000459642.1:n.552del
ENST00000616242.4:c.1169del ENSP00000482149.1:p.Asn390ThrfsTer11
NM_000162.3:c.1172del NP_000153.1:p.Asn391ThrfsTer11
NM_033507.1:c.1175del NP_277042.1:p.Asn392ThrfsTer11
NM_033508.1:c.1169del NP_277043.1:p.Asn390ThrfsTer11
NM_000162.4:c.1172del NP_000153.1:p.Asn391ThrfsTer11
NM_001354800.1:c.1172del NP_001341729.1:p.Asn391ThrfsTer11
NM_001354801.1:c.161del NP_001341730.1:p.Asn54ThrfsTer11
NM_001354802.1:c.32del NP_001341731.1:p.Asn11ThrfsTer11
NM_001354803.1:c.206del NP_001341732.1:p.Asn69ThrfsTer11
NM_033507.2:c.1175del NP_277042.1:p.Asn392ThrfsTer11
NM_033508.2:c.1169del NP_277043.1:p.Asn390ThrfsTer11
XM_024446707.1:c.32del XP_024302475.1:p.Asn11ThrfsTer11
NM_000162.5:c.1172del MANE Select NP_000153.1:p.Asn391ThrfsTer11
NM_033507.3:c.1175del NP_277042.1:p.Asn392ThrfsTer11
NM_033508.3:c.1169del NP_277043.1:p.Asn390ThrfsTer11
NM_001354803.2:c.206del NP_001341732.1:p.Asn69ThrfsTer11