Canonical Allele Identifier: CA16618470
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 423412
ClinVar RCV Id: RCV000479670 RCV002464015
dbSNP Id: rs1064796410
MyVariant Identifiers: chr7:g.44190607del (hg19) chr7:g.44151008del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151008del , CM000669.2:g.44151008del GRCh38
NC_000007.13:g.44190607del , CM000669.1:g.44190607del GRCh37
NC_000007.12:g.44157132del NCBI36
NG_008847.1:g.43416del
NG_008847.2:g.52163del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*429del ENSP00000379142.4:n.*429del
ENST00000616242.5:c.431del ENSP00000482149.2:p.Leu144ArgfsTer11
ENST00000682635.1:n.917del
ENST00000345378.7:c.434del ENSP00000223366.2:p.Leu145ArgfsTer11
ENST00000403799.8:c.431del MANE Select ENSP00000384247.3:p.Leu144ArgfsTer11
ENST00000671824.1:c.431del ENSP00000500264.1:p.Leu144ArgfsTer11
ENST00000673284.1:c.431del ENSP00000499852.1:p.Leu144ArgfsTer11
ENST00000345378.6:c.434del ENSP00000223366.2:p.Leu145ArgfsTer11
ENST00000395796.7:c.428del ENSP00000379142.3:p.Leu143ArgfsTer11
ENST00000403799.7:c.431del ENSP00000384247.3:p.Leu144ArgfsTer11
ENST00000437084.1:c.380del ENSP00000402840.1:p.Leu127ArgfsTer11
ENST00000616242.4:c.428del ENSP00000482149.1:p.Leu143ArgfsTer11
NM_000162.3:c.431del NP_000153.1:p.Leu144ArgfsTer11
NM_033507.1:c.434del NP_277042.1:p.Leu145ArgfsTer11
NM_033508.1:c.428del NP_277043.1:p.Leu143ArgfsTer11
NM_000162.4:c.431del NP_000153.1:p.Leu144ArgfsTer11
NM_001354800.1:c.431del NP_001341729.1:p.Leu144ArgfsTer11
NM_033507.2:c.434del NP_277042.1:p.Leu145ArgfsTer11
NM_033508.2:c.428del NP_277043.1:p.Leu143ArgfsTer11
NM_000162.5:c.431del MANE Select NP_000153.1:p.Leu144ArgfsTer11
NM_033507.3:c.434del NP_277042.1:p.Leu145ArgfsTer11
NM_033508.3:c.428del NP_277043.1:p.Leu143ArgfsTer11
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