Canonical Allele Identifier: CA838779625
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1302089240
gnomAD v3: 7-44147874-TGCCCCGGA-T
gnomAD v4: 7-44147874-TGCCCCGGA-T
MyVariant Identifiers: chr7:g.44187474_44187481del (hg19) chr7:g.44147875_44147882del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147876_44147883del , CM000669.2:g.44147876_44147883del GRCh38
NC_000007.13:g.44187475_44187482del , CM000669.1:g.44187475_44187482del GRCh37
NC_000007.12:g.44154000_44154007del NCBI36
NG_008847.1:g.46542_46549del
NG_008847.2:g.55289_55296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-49_*678-42del ENSP00000379142.4:n.*678-49_*678-42del
ENST00000616242.5:c.680-49_680-42del ENSP00000482149.2:n.680-49_680-42del
ENST00000345378.7:c.683-49_683-42del ENSP00000223366.2:n.683-49_683-42del
ENST00000403799.8:c.680-49_680-42del MANE Select ENSP00000384247.3:n.680-49_680-42del
ENST00000671824.1:c.680-49_680-42del ENSP00000500264.1:n.680-49_680-42del
ENST00000673284.1:c.680-49_680-42del ENSP00000499852.1:n.680-49_680-42del
ENST00000345378.6:c.683-49_683-42del ENSP00000223366.2:n.683-49_683-42del
ENST00000395796.7:c.677-49_677-42del ENSP00000379142.3:n.677-49_677-42del
ENST00000403799.7:c.680-49_680-42del ENSP00000384247.3:n.680-49_680-42del
ENST00000437084.1:c.629-49_629-42del ENSP00000402840.1:n.629-49_629-42del
ENST00000616242.4:c.677-49_677-42del ENSP00000482149.1:n.677-49_677-42del
NM_000162.3:c.680-49_680-42del NP_000153.1:n.680-49_680-42del
NM_033507.1:c.683-49_683-42del NP_277042.1:n.683-49_683-42del
NM_033508.1:c.677-49_677-42del NP_277043.1:n.677-49_677-42del
XR_927223.1:n.82+128_82+135del
NM_000162.4:c.680-49_680-42del NP_000153.1:n.680-49_680-42del
NM_001354800.1:c.680-49_680-42del NP_001341729.1:n.680-49_680-42del
NM_033507.2:c.683-49_683-42del NP_277042.1:n.683-49_683-42del
NM_033508.2:c.677-49_677-42del NP_277043.1:n.677-49_677-42del
XR_927223.2:n.82+128_82+135del
NM_000162.5:c.680-49_680-42del MANE Select NP_000153.1:n.680-49_680-42del
NM_033507.3:c.683-49_683-42del NP_277042.1:n.683-49_683-42del
NM_033508.3:c.677-49_677-42del NP_277043.1:n.677-49_677-42del
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