Canonical Allele Identifier: CA2695203018
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153338del , CM000669.2:g.44153338del GRCh38
NC_000007.13:g.44192937del , CM000669.1:g.44192937del GRCh37
NC_000007.12:g.44159462del NCBI36
NG_008847.1:g.41086del
NG_008847.2:g.49833del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*169del ENSP00000379142.4:n.*169del
ENST00000616242.5:c.171del ENSP00000482149.2:p.Met57IlefsTer30
ENST00000682635.1:n.657del
ENST00000345378.7:c.174del ENSP00000223366.2:p.Met58IlefsTer30
ENST00000403799.8:c.171del MANE Select ENSP00000384247.3:p.Met57IlefsTer30
ENST00000671824.1:c.171del ENSP00000500264.1:p.Met57IlefsTer30
ENST00000673284.1:c.171del ENSP00000499852.1:p.Met57IlefsTer30
ENST00000345378.6:c.174del ENSP00000223366.2:p.Met58IlefsTer30
ENST00000395796.7:c.168del ENSP00000379142.3:p.Met56IlefsTer30
ENST00000403799.7:c.171del ENSP00000384247.3:p.Met57IlefsTer30
ENST00000437084.1:c.171del ENSP00000402840.1:p.Met57IlefsTer30
ENST00000616242.4:c.168del ENSP00000482149.1:p.Met56IlefsTer30
NM_000162.3:c.171del NP_000153.1:p.Met57IlefsTer30
NM_033507.1:c.174del NP_277042.1:p.Met58IlefsTer30
NM_033508.1:c.168del NP_277043.1:p.Met56IlefsTer30
NM_000162.4:c.171del NP_000153.1:p.Met57IlefsTer30
NM_001354800.1:c.171del NP_001341729.1:p.Met57IlefsTer30
NM_033507.2:c.174del NP_277042.1:p.Met58IlefsTer30
NM_033508.2:c.168del NP_277043.1:p.Met56IlefsTer30
NM_000162.5:c.171del MANE Select NP_000153.1:p.Met57IlefsTer30
NM_033507.3:c.174del NP_277042.1:p.Met58IlefsTer30
NM_033508.3:c.168del NP_277043.1:p.Met56IlefsTer30