Canonical Allele Identifier: CA2682589576
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147922-TCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147926_44147927del , CM000669.2:g.44147926_44147927del GRCh38
NC_000007.13:g.44187525_44187526del , CM000669.1:g.44187525_44187526del GRCh37
NC_000007.12:g.44154050_44154051del NCBI36
NG_008847.1:g.46500_46501del
NG_008847.2:g.55247_55248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-91_*678-90del ENSP00000379142.4:n.*678-91_*678-90del
ENST00000616242.5:c.680-91_680-90del ENSP00000482149.2:n.680-91_680-90del
ENST00000345378.7:c.683-91_683-90del ENSP00000223366.2:n.683-91_683-90del
ENST00000403799.8:c.680-91_680-90del MANE Select ENSP00000384247.3:n.680-91_680-90del
ENST00000671824.1:c.680-91_680-90del ENSP00000500264.1:n.680-91_680-90del
ENST00000673284.1:c.680-91_680-90del ENSP00000499852.1:n.680-91_680-90del
ENST00000345378.6:c.683-91_683-90del ENSP00000223366.2:n.683-91_683-90del
ENST00000395796.7:c.677-91_677-90del ENSP00000379142.3:n.677-91_677-90del
ENST00000403799.7:c.680-91_680-90del ENSP00000384247.3:n.680-91_680-90del
ENST00000437084.1:c.629-91_629-90del ENSP00000402840.1:n.629-91_629-90del
ENST00000616242.4:c.677-91_677-90del ENSP00000482149.1:n.677-91_677-90del
NM_000162.3:c.680-91_680-90del NP_000153.1:n.680-91_680-90del
NM_033507.1:c.683-91_683-90del NP_277042.1:n.683-91_683-90del
NM_033508.1:c.677-91_677-90del NP_277043.1:n.677-91_677-90del
XR_927223.1:n.82+178_82+179del
NM_000162.4:c.680-91_680-90del NP_000153.1:n.680-91_680-90del
NM_001354800.1:c.680-91_680-90del NP_001341729.1:n.680-91_680-90del
NM_033507.2:c.683-91_683-90del NP_277042.1:n.683-91_683-90del
NM_033508.2:c.677-91_677-90del NP_277043.1:n.677-91_677-90del
XR_927223.2:n.82+178_82+179del
NM_000162.5:c.680-91_680-90del MANE Select NP_000153.1:n.680-91_680-90del
NM_033507.3:c.683-91_683-90del NP_277042.1:n.683-91_683-90del
NM_033508.3:c.677-91_677-90del NP_277043.1:n.677-91_677-90del
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