Canonical Allele Identifier: CA2695202943
Gene: GCK HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150028_44150031del , CM000669.2:g.44150028_44150031del GRCh38
NC_000007.13:g.44189627_44189630del , CM000669.1:g.44189627_44189630del GRCh37
NC_000007.12:g.44156152_44156155del NCBI36
NG_008847.1:g.44393_44396del
NG_008847.2:g.53140_53143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*515_*518del ENSP00000379142.4:n.*515_*518del
ENST00000616242.5:c.517_520del ENSP00000482149.2:p.Ala173GlnfsTer30
ENST00000682635.1:n.1003_1006del
ENST00000345378.7:c.520_523del ENSP00000223366.2:p.Ala174GlnfsTer30
ENST00000403799.8:c.517_520del MANE Select ENSP00000384247.3:p.Ala173GlnfsTer30
ENST00000671824.1:c.517_520del ENSP00000500264.1:p.Ala173GlnfsTer30
ENST00000673284.1:c.517_520del ENSP00000499852.1:p.Ala173GlnfsTer30
ENST00000345378.6:c.520_523del ENSP00000223366.2:p.Ala174GlnfsTer30
ENST00000395796.7:c.514_517del ENSP00000379142.3:p.Ala172GlnfsTer30
ENST00000403799.7:c.517_520del ENSP00000384247.3:p.Ala173GlnfsTer30
ENST00000437084.1:c.466_469del ENSP00000402840.1:p.Ala156GlnfsTer30
ENST00000616242.4:c.514_517del ENSP00000482149.1:p.Ala172GlnfsTer30
NM_000162.3:c.517_520del NP_000153.1:p.Ala173GlnfsTer30
NM_033507.1:c.520_523del NP_277042.1:p.Ala174GlnfsTer30
NM_033508.1:c.514_517del NP_277043.1:p.Ala172GlnfsTer30
NM_000162.4:c.517_520del NP_000153.1:p.Ala173GlnfsTer30
NM_001354800.1:c.517_520del NP_001341729.1:p.Ala173GlnfsTer30
NM_033507.2:c.520_523del NP_277042.1:p.Ala174GlnfsTer30
NM_033508.2:c.514_517del NP_277043.1:p.Ala172GlnfsTer30
NM_000162.5:c.517_520del MANE Select NP_000153.1:p.Ala173GlnfsTer30
NM_033507.3:c.520_523del NP_277042.1:p.Ala174GlnfsTer30
NM_033508.3:c.514_517del NP_277043.1:p.Ala172GlnfsTer30
Search 100 bp 5'
Search 100 bp 3'