Canonical Allele Identifier: CA2695203068
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146553_44146554del , CM000669.2:g.44146553_44146554del GRCh38
NC_000007.13:g.44186152_44186153del , CM000669.1:g.44186152_44186153del GRCh37
NC_000007.12:g.44152677_44152678del NCBI36
NG_008847.1:g.47871_47872del
NG_008847.2:g.56618_56619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*927_*928del ENSP00000379142.4:n.*927_*928del
ENST00000616242.5:c.*49_*50del ENSP00000482149.2:n.*49_*50del
ENST00000683378.1:n.155_156del
ENST00000345378.7:c.932_933del ENSP00000223366.2:p.Val311GlyfsTer?
ENST00000403799.8:c.929_930del MANE Select ENSP00000384247.3:p.Val310GlyfsTer?
ENST00000671824.1:c.992_993del ENSP00000500264.1:p.Val331GlyfsTer?
ENST00000673284.1:c.929_930del ENSP00000499852.1:p.Val310GlyfsTer?
ENST00000345378.6:c.932_933del ENSP00000223366.2:p.Val311GlyfsTer?
ENST00000395796.7:c.926_927del ENSP00000379142.3:p.Val309GlyfsTer?
ENST00000403799.7:c.929_930del ENSP00000384247.3:p.Val310GlyfsTer?
ENST00000437084.1:c.878_879del ENSP00000402840.1:p.Val293GlyfsTer?
ENST00000473353.1:n.227_228del
ENST00000616242.4:c.926_927del ENSP00000482149.1:p.Val309GlyfsTer?
NM_000162.3:c.929_930del NP_000153.1:p.Val310GlyfsTer?
NM_033507.1:c.932_933del NP_277042.1:p.Val311GlyfsTer?
NM_033508.1:c.926_927del NP_277043.1:p.Val309GlyfsTer?
NM_000162.4:c.929_930del NP_000153.1:p.Val310GlyfsTer?
NM_001354800.1:c.929_930del NP_001341729.1:p.Val310GlyfsTer?
NM_001354801.1:c.8+66_8+67del NP_001341730.1:n.8+66_8+67del
NM_033507.2:c.932_933del NP_277042.1:p.Val311GlyfsTer?
NM_033508.2:c.926_927del NP_277043.1:p.Val309GlyfsTer?
NM_000162.5:c.929_930del MANE Select NP_000153.1:p.Val310GlyfsTer?
NM_033507.3:c.932_933del NP_277042.1:p.Val311GlyfsTer?
NM_033508.3:c.926_927del NP_277043.1:p.Val309GlyfsTer?