Canonical Allele Identifier: CA2695203008
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145585del , CM000669.2:g.44145585del GRCh38
NC_000007.13:g.44185184del , CM000669.1:g.44185184del GRCh37
NC_000007.12:g.44151709del NCBI36
NG_008847.1:g.48839del
NG_008847.2:g.57586del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1163del ENSP00000379142.4:n.*1163del
ENST00000616242.5:c.*285del ENSP00000482149.2:n.*285del
ENST00000683378.1:n.391del
ENST00000336642.9:c.199del ENSP00000338009.5:p.Val67SerfsTer13
ENST00000345378.7:c.1168del ENSP00000223366.2:p.Val390SerfsTer13
ENST00000403799.8:c.1165del MANE Select ENSP00000384247.3:p.Val389SerfsTer13
ENST00000671824.1:c.1228del ENSP00000500264.1:p.Val410SerfsTer13
ENST00000672743.1:n.177del
ENST00000673284.1:c.1165del ENSP00000499852.1:p.Val389SerfsTer13
ENST00000336642.8:c.217del ENSP00000338009.4:p.Val73SerfsTer13
ENST00000345378.6:c.1168del ENSP00000223366.2:p.Val390SerfsTer13
ENST00000395796.7:c.1162del ENSP00000379142.3:p.Val388SerfsTer13
ENST00000403799.7:c.1165del ENSP00000384247.3:p.Val389SerfsTer13
ENST00000437084.1:c.1114del ENSP00000402840.1:p.Val372SerfsTer13
ENST00000459642.1:n.545del
ENST00000616242.4:c.1162del ENSP00000482149.1:p.Val388SerfsTer13
NM_000162.3:c.1165del NP_000153.1:p.Val389SerfsTer13
NM_033507.1:c.1168del NP_277042.1:p.Val390SerfsTer13
NM_033508.1:c.1162del NP_277043.1:p.Val388SerfsTer13
NM_000162.4:c.1165del NP_000153.1:p.Val389SerfsTer13
NM_001354800.1:c.1165del NP_001341729.1:p.Val389SerfsTer13
NM_001354801.1:c.154del NP_001341730.1:p.Val52SerfsTer13
NM_001354802.1:c.25del NP_001341731.1:p.Val9SerfsTer13
NM_001354803.1:c.199del NP_001341732.1:p.Val67SerfsTer13
NM_033507.2:c.1168del NP_277042.1:p.Val390SerfsTer13
NM_033508.2:c.1162del NP_277043.1:p.Val388SerfsTer13
XM_024446707.1:c.25del XP_024302475.1:p.Val9SerfsTer13
NM_000162.5:c.1165del MANE Select NP_000153.1:p.Val389SerfsTer13
NM_033507.3:c.1168del NP_277042.1:p.Val390SerfsTer13
NM_033508.3:c.1162del NP_277043.1:p.Val388SerfsTer13
NM_001354803.2:c.199del NP_001341732.1:p.Val67SerfsTer13