Canonical Allele Identifier: CA645369436
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 429640
ClinVar RCV Id: RCV000493930 RCV000503344 RCV002463683 RCV003493603
dbSNP Id: rs1131691505
MyVariant Identifiers: chr7:g.44185211_44185219del (hg19) chr7:g.44145612_44145620del (hg38)
ERepo: CA645369436/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145615_44145623del , CM000669.2:g.44145615_44145623del GRCh38
NC_000007.13:g.44185214_44185222del , CM000669.1:g.44185214_44185222del GRCh37
NC_000007.12:g.44151739_44151747del NCBI36
NG_008847.1:g.48804_48812del
NG_008847.2:g.57551_57559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1128_*1136del ENSP00000379142.4:n.*1128_*1136del
ENST00000616242.5:c.*250_*258del ENSP00000482149.2:n.*250_*258del
ENST00000683378.1:n.356_364del
ENST00000336642.9:c.164_172del ENSP00000338009.5:p.Arg55_Ala57del
ENST00000345378.7:c.1133_1141del ENSP00000223366.2:p.Arg378_Ala380del
ENST00000403799.8:c.1130_1138del MANE Select ENSP00000384247.3:p.Arg377_Ala379del
ENST00000671824.1:c.1193_1201del ENSP00000500264.1:p.Arg398_Ala400del
ENST00000672743.1:n.142_150del
ENST00000673284.1:c.1130_1138del ENSP00000499852.1:p.Arg377_Ala379del
ENST00000336642.8:c.182_190del ENSP00000338009.4:p.Arg61_Ala63del
ENST00000345378.6:c.1133_1141del ENSP00000223366.2:p.Arg378_Ala380del
ENST00000395796.7:c.1127_1135del ENSP00000379142.3:p.Arg376_Ala378del
ENST00000403799.7:c.1130_1138del ENSP00000384247.3:p.Arg377_Ala379del
ENST00000437084.1:c.1079_1087del ENSP00000402840.1:p.Arg360_Ala362del
ENST00000459642.1:n.510_518del
ENST00000616242.4:c.1127_1135del ENSP00000482149.1:p.Arg376_Ala378del
NM_000162.3:c.1130_1138del NP_000153.1:p.Arg377_Ala379del
NM_033507.1:c.1133_1141del NP_277042.1:p.Arg378_Ala380del
NM_033508.1:c.1127_1135del NP_277043.1:p.Arg376_Ala378del
NM_000162.4:c.1130_1138del NP_000153.1:p.Arg377_Ala379del
NM_001354800.1:c.1130_1138del NP_001341729.1:p.Arg377_Ala379del
NM_001354801.1:c.119_127del NP_001341730.1:p.Arg40_Ala42del
NM_001354802.1:c.-11_-3del NP_001341731.1:n.-11_-3del
NM_001354803.1:c.164_172del NP_001341732.1:p.Arg55_Ala57del
NM_033507.2:c.1133_1141del NP_277042.1:p.Arg378_Ala380del
NM_033508.2:c.1127_1135del NP_277043.1:p.Arg376_Ala378del
XM_024446707.1:c.-11_-3del XP_024302475.1:n.-11_-3del
NM_000162.5:c.1130_1138del MANE Select NP_000153.1:p.Arg377_Ala379del
NM_033507.3:c.1133_1141del NP_277042.1:p.Arg378_Ala380del
NM_033508.3:c.1127_1135del NP_277043.1:p.Arg376_Ala378del
NM_001354803.2:c.164_172del NP_001341732.1:p.Arg55_Ala57del
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