Canonical Allele Identifier: CA2695203044
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145637_44145638del , CM000669.2:g.44145637_44145638del GRCh38
NC_000007.13:g.44185236_44185237del , CM000669.1:g.44185236_44185237del GRCh37
NC_000007.12:g.44151761_44151762del NCBI36
NG_008847.1:g.48787_48788del
NG_008847.2:g.57534_57535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1111_*1112del ENSP00000379142.4:n.*1111_*1112del
ENST00000616242.5:c.*233_*234del ENSP00000482149.2:n.*233_*234del
ENST00000683378.1:n.339_340del
ENST00000336642.9:c.147_148del ENSP00000338009.5:p.Cys49Ter
ENST00000345378.7:c.1116_1117del ENSP00000223366.2:p.Cys372Ter
ENST00000403799.8:c.1113_1114del MANE Select ENSP00000384247.3:p.Cys371Ter
ENST00000671824.1:c.1176_1177del ENSP00000500264.1:p.Cys392Ter
ENST00000672743.1:n.125_126del
ENST00000673284.1:c.1113_1114del ENSP00000499852.1:p.Cys371Ter
ENST00000336642.8:c.165_166del ENSP00000338009.4:p.Cys55Ter
ENST00000345378.6:c.1116_1117del ENSP00000223366.2:p.Cys372Ter
ENST00000395796.7:c.1110_1111del ENSP00000379142.3:p.Cys370Ter
ENST00000403799.7:c.1113_1114del ENSP00000384247.3:p.Cys371Ter
ENST00000437084.1:c.1062_1063del ENSP00000402840.1:p.Cys354Ter
ENST00000459642.1:n.493_494del
ENST00000616242.4:c.1110_1111del ENSP00000482149.1:p.Cys370Ter
NM_000162.3:c.1113_1114del NP_000153.1:p.Cys371Ter
NM_033507.1:c.1116_1117del NP_277042.1:p.Cys372Ter
NM_033508.1:c.1110_1111del NP_277043.1:p.Cys370Ter
NM_000162.4:c.1113_1114del NP_000153.1:p.Cys371Ter
NM_001354800.1:c.1113_1114del NP_001341729.1:p.Cys371Ter
NM_001354801.1:c.102_103del NP_001341730.1:p.Cys34Ter
NM_001354802.1:c.-28_-27del NP_001341731.1:n.-28_-27del
NM_001354803.1:c.147_148del NP_001341732.1:p.Cys49Ter
NM_033507.2:c.1116_1117del NP_277042.1:p.Cys372Ter
NM_033508.2:c.1110_1111del NP_277043.1:p.Cys370Ter
XM_024446707.1:c.-28_-27del XP_024302475.1:n.-28_-27del
NM_000162.5:c.1113_1114del MANE Select NP_000153.1:p.Cys371Ter
NM_033507.3:c.1116_1117del NP_277042.1:p.Cys372Ter
NM_033508.3:c.1110_1111del NP_277043.1:p.Cys370Ter
NM_001354803.2:c.147_148del NP_001341732.1:p.Cys49Ter