Canonical Allele Identifier: CA2682589557
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44147920-GCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147922_44147923del , CM000669.2:g.44147922_44147923del GRCh38
NC_000007.13:g.44187521_44187522del , CM000669.1:g.44187521_44187522del GRCh37
NC_000007.12:g.44154046_44154047del NCBI36
NG_008847.1:g.46502_46503del
NG_008847.2:g.55249_55250del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-89_*678-88del ENSP00000379142.4:n.*678-89_*678-88del
ENST00000616242.5:c.680-89_680-88del ENSP00000482149.2:n.680-89_680-88del
ENST00000345378.7:c.683-89_683-88del ENSP00000223366.2:n.683-89_683-88del
ENST00000403799.8:c.680-89_680-88del MANE Select ENSP00000384247.3:n.680-89_680-88del
ENST00000671824.1:c.680-89_680-88del ENSP00000500264.1:n.680-89_680-88del
ENST00000673284.1:c.680-89_680-88del ENSP00000499852.1:n.680-89_680-88del
ENST00000345378.6:c.683-89_683-88del ENSP00000223366.2:n.683-89_683-88del
ENST00000395796.7:c.677-89_677-88del ENSP00000379142.3:n.677-89_677-88del
ENST00000403799.7:c.680-89_680-88del ENSP00000384247.3:n.680-89_680-88del
ENST00000437084.1:c.629-89_629-88del ENSP00000402840.1:n.629-89_629-88del
ENST00000616242.4:c.677-89_677-88del ENSP00000482149.1:n.677-89_677-88del
NM_000162.3:c.680-89_680-88del NP_000153.1:n.680-89_680-88del
NM_033507.1:c.683-89_683-88del NP_277042.1:n.683-89_683-88del
NM_033508.1:c.677-89_677-88del NP_277043.1:n.677-89_677-88del
XR_927223.1:n.82+174_82+175del
NM_000162.4:c.680-89_680-88del NP_000153.1:n.680-89_680-88del
NM_001354800.1:c.680-89_680-88del NP_001341729.1:n.680-89_680-88del
NM_033507.2:c.683-89_683-88del NP_277042.1:n.683-89_683-88del
NM_033508.2:c.677-89_677-88del NP_277043.1:n.677-89_677-88del
XR_927223.2:n.82+174_82+175del
NM_000162.5:c.680-89_680-88del MANE Select NP_000153.1:n.680-89_680-88del
NM_033507.3:c.683-89_683-88del NP_277042.1:n.683-89_683-88del
NM_033508.3:c.677-89_677-88del NP_277043.1:n.677-89_677-88del
Search 100 bp 5'
Search 100 bp 3'