Canonical Allele Identifier: CA2695203047
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145648_44145683del , CM000669.2:g.44145648_44145683del GRCh38
NC_000007.13:g.44185247_44185282del , CM000669.1:g.44185247_44185282del GRCh37
NC_000007.12:g.44151772_44151807del NCBI36
NG_008847.1:g.48742_48777del
NG_008847.2:g.57489_57524del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1066_*1101del ENSP00000379142.4:n.*1066_*1101del
ENST00000616242.5:c.*188_*223del ENSP00000482149.2:n.*188_*223del
ENST00000683378.1:n.294_329del
ENST00000336642.9:c.102_137del ENSP00000338009.5:p.Leu35_Arg46del
ENST00000345378.7:c.1071_1106del ENSP00000223366.2:p.Leu358_Arg369del
ENST00000403799.8:c.1068_1103del MANE Select ENSP00000384247.3:p.Leu357_Arg368del
ENST00000671824.1:c.1131_1166del ENSP00000500264.1:p.Leu378_Arg389del
ENST00000672743.1:n.80_115del
ENST00000673284.1:c.1068_1103del ENSP00000499852.1:p.Leu357_Arg368del
ENST00000336642.8:c.120_155del ENSP00000338009.4:p.Leu41_Arg52del
ENST00000345378.6:c.1071_1106del ENSP00000223366.2:p.Leu358_Arg369del
ENST00000395796.7:c.1065_1100del ENSP00000379142.3:p.Leu356_Arg367del
ENST00000403799.7:c.1068_1103del ENSP00000384247.3:p.Leu357_Arg368del
ENST00000437084.1:c.1017_1052del ENSP00000402840.1:p.Leu340_Arg351del
ENST00000459642.1:n.448_483del
ENST00000473353.1:n.366_401del
ENST00000616242.4:c.1065_1100del ENSP00000482149.1:p.Leu356_Arg367del
NM_000162.3:c.1068_1103del NP_000153.1:p.Leu357_Arg368del
NM_033507.1:c.1071_1106del NP_277042.1:p.Leu358_Arg369del
NM_033508.1:c.1065_1100del NP_277043.1:p.Leu356_Arg367del
NM_000162.4:c.1068_1103del NP_000153.1:p.Leu357_Arg368del
NM_001354800.1:c.1068_1103del NP_001341729.1:p.Leu357_Arg368del
NM_001354801.1:c.57_92del NP_001341730.1:p.Leu20_Arg31del
NM_001354802.1:c.-73_-38del NP_001341731.1:n.-73_-38del
NM_001354803.1:c.102_137del NP_001341732.1:p.Leu35_Arg46del
NM_033507.2:c.1071_1106del NP_277042.1:p.Leu358_Arg369del
NM_033508.2:c.1065_1100del NP_277043.1:p.Leu356_Arg367del
XM_024446707.1:c.-73_-38del XP_024302475.1:n.-73_-38del
NM_000162.5:c.1068_1103del MANE Select NP_000153.1:p.Leu357_Arg368del
NM_033507.3:c.1071_1106del NP_277042.1:p.Leu358_Arg369del
NM_033508.3:c.1065_1100del NP_277043.1:p.Leu356_Arg367del
NM_001354803.2:c.102_137del NP_001341732.1:p.Leu35_Arg46del