Canonical Allele Identifier: CA2695203073
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146590_44146600del , CM000669.2:g.44146590_44146600del GRCh38
NC_000007.13:g.44186189_44186199del , CM000669.1:g.44186189_44186199del GRCh37
NC_000007.12:g.44152714_44152724del NCBI36
NG_008847.1:g.47827_47837del
NG_008847.2:g.56574_56584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*883_*893del ENSP00000379142.4:n.*883_*893del
ENST00000616242.5:c.*5_*15del ENSP00000482149.2:n.*5_*15del
ENST00000683378.1:n.111_121del
ENST00000345378.7:c.888_898del ENSP00000223366.2:p.Lys297ArgfsTer?
ENST00000403799.8:c.885_895del MANE Select ENSP00000384247.3:p.Lys296ArgfsTer?
ENST00000671824.1:c.948_958del ENSP00000500264.1:p.Lys317ArgfsTer?
ENST00000673284.1:c.885_895del ENSP00000499852.1:p.Lys296ArgfsTer?
ENST00000345378.6:c.888_898del ENSP00000223366.2:p.Lys297ArgfsTer?
ENST00000395796.7:c.882_892del ENSP00000379142.3:p.Lys295ArgfsTer?
ENST00000403799.7:c.885_895del ENSP00000384247.3:p.Lys296ArgfsTer?
ENST00000437084.1:c.834_844del ENSP00000402840.1:p.Lys279ArgfsTer?
ENST00000473353.1:n.183_193del
ENST00000616242.4:c.882_892del ENSP00000482149.1:p.Lys295ArgfsTer?
NM_000162.3:c.885_895del NP_000153.1:p.Lys296ArgfsTer?
NM_033507.1:c.888_898del NP_277042.1:p.Lys297ArgfsTer?
NM_033508.1:c.882_892del NP_277043.1:p.Lys295ArgfsTer?
NM_000162.4:c.885_895del NP_000153.1:p.Lys296ArgfsTer?
NM_001354800.1:c.885_895del NP_001341729.1:p.Lys296ArgfsTer?
NM_001354801.1:c.8+22_8+32del NP_001341730.1:n.8+22_8+32del
NM_033507.2:c.888_898del NP_277042.1:p.Lys297ArgfsTer?
NM_033508.2:c.882_892del NP_277043.1:p.Lys295ArgfsTer?
NM_000162.5:c.885_895del MANE Select NP_000153.1:p.Lys296ArgfsTer?
NM_033507.3:c.888_898del NP_277042.1:p.Lys297ArgfsTer?
NM_033508.3:c.882_892del NP_277043.1:p.Lys295ArgfsTer?