Canonical Allele Identifier: CA574226430
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1245107240
gnomAD v2: 7-44187468-TG-T
gnomAD v4: 7-44147869-TG-T
MyVariant Identifiers: chr7:g.44187469del (hg19) chr7:g.44147870del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147870del , CM000669.2:g.44147870del GRCh38
NC_000007.13:g.44187469del , CM000669.1:g.44187469del GRCh37
NC_000007.12:g.44153994del NCBI36
NG_008847.1:g.46554del
NG_008847.2:g.55301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*678-37del ENSP00000379142.4:n.*678-37del
ENST00000616242.5:c.680-37del ENSP00000482149.2:n.680-37del
ENST00000345378.7:c.683-37del ENSP00000223366.2:n.683-37del
ENST00000403799.8:c.680-37del MANE Select ENSP00000384247.3:n.680-37del
ENST00000671824.1:c.680-37del ENSP00000500264.1:n.680-37del
ENST00000673284.1:c.680-37del ENSP00000499852.1:n.680-37del
ENST00000345378.6:c.683-37del ENSP00000223366.2:n.683-37del
ENST00000395796.7:c.677-37del ENSP00000379142.3:n.677-37del
ENST00000403799.7:c.680-37del ENSP00000384247.3:n.680-37del
ENST00000437084.1:c.629-37del ENSP00000402840.1:n.629-37del
ENST00000616242.4:c.677-37del ENSP00000482149.1:n.677-37del
NM_000162.3:c.680-37del NP_000153.1:n.680-37del
NM_033507.1:c.683-37del NP_277042.1:n.683-37del
NM_033508.1:c.677-37del NP_277043.1:n.677-37del
XR_927223.1:n.82+122del
NM_000162.4:c.680-37del NP_000153.1:n.680-37del
NM_001354800.1:c.680-37del NP_001341729.1:n.680-37del
NM_033507.2:c.683-37del NP_277042.1:n.683-37del
NM_033508.2:c.677-37del NP_277043.1:n.677-37del
XR_927223.2:n.82+122del
NM_000162.5:c.680-37del MANE Select NP_000153.1:n.680-37del
NM_033507.3:c.683-37del NP_277042.1:n.683-37del
NM_033508.3:c.677-37del NP_277043.1:n.677-37del
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