Canonical Allele Identifier: CA1139660059
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 995099
ClinVar RCV Id: RCV001288972 RCV002227265 RCV002464439
dbSNP Id: rs2096283216
gnomAD v4: 7-44153391-CCTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153394_44153396del , CM000669.2:g.44153394_44153396del GRCh38
NC_000007.13:g.44192993_44192995del , CM000669.1:g.44192993_44192995del GRCh37
NC_000007.12:g.44159518_44159520del NCBI36
NG_008847.1:g.41030_41032del
NG_008847.2:g.49777_49779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*113_*115del ENSP00000379142.4:n.*113_*115del
ENST00000616242.5:c.115_117del ENSP00000482149.2:p.Lys39del
ENST00000682635.1:n.601_603del
ENST00000345378.7:c.118_120del ENSP00000223366.2:p.Lys40del
ENST00000403799.8:c.115_117del MANE Select ENSP00000384247.3:p.Lys39del
ENST00000671824.1:c.115_117del ENSP00000500264.1:p.Lys39del
ENST00000673284.1:c.115_117del ENSP00000499852.1:p.Lys39del
ENST00000345378.6:c.118_120del ENSP00000223366.2:p.Lys40del
ENST00000395796.7:c.112_114del ENSP00000379142.3:p.Lys38del
ENST00000403799.7:c.115_117del ENSP00000384247.3:p.Lys39del
ENST00000437084.1:c.115_117del ENSP00000402840.1:p.Lys39del
ENST00000476008.1:n.550_552del
ENST00000616242.4:c.112_114del ENSP00000482149.1:p.Lys38del
NM_000162.3:c.115_117del NP_000153.1:p.Lys39del
NM_033507.1:c.118_120del NP_277042.1:p.Lys40del
NM_033508.1:c.112_114del NP_277043.1:p.Lys38del
NM_000162.4:c.115_117del NP_000153.1:p.Lys39del
NM_001354800.1:c.115_117del NP_001341729.1:p.Lys39del
NM_033507.2:c.118_120del NP_277042.1:p.Lys40del
NM_033508.2:c.112_114del NP_277043.1:p.Lys38del
NM_000162.5:c.115_117del MANE Select NP_000153.1:p.Lys39del
NM_033507.3:c.118_120del NP_277042.1:p.Lys40del
NM_033508.3:c.112_114del NP_277043.1:p.Lys38del
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