Canonical Allele Identifier: CA2695203016
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145618_44145640del , CM000669.2:g.44145618_44145640del GRCh38
NC_000007.13:g.44185217_44185239del , CM000669.1:g.44185217_44185239del GRCh37
NC_000007.12:g.44151742_44151764del NCBI36
NG_008847.1:g.48789_48811del
NG_008847.2:g.57536_57558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1113_*1135del ENSP00000379142.4:n.*1113_*1135del
ENST00000616242.5:c.*235_*257del ENSP00000482149.2:n.*235_*257del
ENST00000683378.1:n.341_363del
ENST00000336642.9:c.149_171del ENSP00000338009.5:p.Glu50AlafsTer?
ENST00000345378.7:c.1118_1140del ENSP00000223366.2:p.Glu373AlafsTer?
ENST00000403799.8:c.1115_1137del MANE Select ENSP00000384247.3:p.Glu372AlafsTer?
ENST00000671824.1:c.1178_1200del ENSP00000500264.1:p.Glu393AlafsTer?
ENST00000672743.1:n.127_149del
ENST00000673284.1:c.1115_1137del ENSP00000499852.1:p.Glu372AlafsTer?
ENST00000336642.8:c.167_189del ENSP00000338009.4:p.Glu56AlafsTer?
ENST00000345378.6:c.1118_1140del ENSP00000223366.2:p.Glu373AlafsTer?
ENST00000395796.7:c.1112_1134del ENSP00000379142.3:p.Glu371AlafsTer?
ENST00000403799.7:c.1115_1137del ENSP00000384247.3:p.Glu372AlafsTer?
ENST00000437084.1:c.1064_1086del ENSP00000402840.1:p.Glu355AlafsTer?
ENST00000459642.1:n.495_517del
ENST00000616242.4:c.1112_1134del ENSP00000482149.1:p.Glu371AlafsTer?
NM_000162.3:c.1115_1137del NP_000153.1:p.Glu372AlafsTer?
NM_033507.1:c.1118_1140del NP_277042.1:p.Glu373AlafsTer?
NM_033508.1:c.1112_1134del NP_277043.1:p.Glu371AlafsTer?
NM_000162.4:c.1115_1137del NP_000153.1:p.Glu372AlafsTer?
NM_001354800.1:c.1115_1137del NP_001341729.1:p.Glu372AlafsTer?
NM_001354801.1:c.104_126del NP_001341730.1:p.Glu35AlafsTer?
NM_001354802.1:c.-26_-4del NP_001341731.1:n.-26_-4del
NM_001354803.1:c.149_171del NP_001341732.1:p.Glu50AlafsTer?
NM_033507.2:c.1118_1140del NP_277042.1:p.Glu373AlafsTer?
NM_033508.2:c.1112_1134del NP_277043.1:p.Glu371AlafsTer?
XM_024446707.1:c.-26_-4del XP_024302475.1:n.-26_-4del
NM_000162.5:c.1115_1137del MANE Select NP_000153.1:p.Glu372AlafsTer?
NM_033507.3:c.1118_1140del NP_277042.1:p.Glu373AlafsTer?
NM_033508.3:c.1112_1134del NP_277043.1:p.Glu371AlafsTer?
NM_001354803.2:c.149_171del NP_001341732.1:p.Glu50AlafsTer?