Canonical Allele Identifier: CA658655962
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447381
ClinVar RCV Id: RCV000516400 RCV002463694 RCV003883153
dbSNP Id: rs1554334610
MyVariant Identifiers: chr7:g.44185200_44185216del (hg19) chr7:g.44145601_44145617del (hg38)
ERepo: CA658655962/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145603_44145619del , CM000669.2:g.44145603_44145619del GRCh38
NC_000007.13:g.44185202_44185218del , CM000669.1:g.44185202_44185218del GRCh37
NC_000007.12:g.44151727_44151743del NCBI36
NG_008847.1:g.48807_48823del
NG_008847.2:g.57554_57570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1131_*1147del ENSP00000379142.4:n.*1131_*1147del
ENST00000616242.5:c.*253_*269del ENSP00000482149.2:n.*253_*269del
ENST00000683378.1:n.359_375del
ENST00000336642.9:c.167_183del ENSP00000338009.5:p.Ala56GlyfsTer?
ENST00000345378.7:c.1136_1152del ENSP00000223366.2:p.Ala379GlyfsTer?
ENST00000403799.8:c.1133_1149del MANE Select ENSP00000384247.3:p.Ala378GlyfsTer?
ENST00000671824.1:c.1196_1212del ENSP00000500264.1:p.Ala399GlyfsTer?
ENST00000672743.1:n.145_161del
ENST00000673284.1:c.1133_1149del ENSP00000499852.1:p.Ala378GlyfsTer?
ENST00000336642.8:c.185_201del ENSP00000338009.4:p.Ala62GlyfsTer?
ENST00000345378.6:c.1136_1152del ENSP00000223366.2:p.Ala379GlyfsTer?
ENST00000395796.7:c.1130_1146del ENSP00000379142.3:p.Ala377GlyfsTer?
ENST00000403799.7:c.1133_1149del ENSP00000384247.3:p.Ala378GlyfsTer?
ENST00000437084.1:c.1082_1098del ENSP00000402840.1:p.Ala361GlyfsTer?
ENST00000459642.1:n.513_529del
ENST00000616242.4:c.1130_1146del ENSP00000482149.1:p.Ala377GlyfsTer?
NM_000162.3:c.1133_1149del NP_000153.1:p.Ala378GlyfsTer?
NM_033507.1:c.1136_1152del NP_277042.1:p.Ala379GlyfsTer?
NM_033508.1:c.1130_1146del NP_277043.1:p.Ala377GlyfsTer?
NM_000162.4:c.1133_1149del NP_000153.1:p.Ala378GlyfsTer?
NM_001354800.1:c.1133_1149del NP_001341729.1:p.Ala378GlyfsTer?
NM_001354801.1:c.122_138del NP_001341730.1:p.Ala41GlyfsTer?
NM_001354802.1:c.-8_9del
NM_001354803.1:c.167_183del NP_001341732.1:p.Ala56GlyfsTer?
NM_033507.2:c.1136_1152del NP_277042.1:p.Ala379GlyfsTer?
NM_033508.2:c.1130_1146del NP_277043.1:p.Ala377GlyfsTer?
XM_024446707.1:c.-8_9del
NM_000162.5:c.1133_1149del MANE Select NP_000153.1:p.Ala378GlyfsTer?
NM_033507.3:c.1136_1152del NP_277042.1:p.Ala379GlyfsTer?
NM_033508.3:c.1130_1146del NP_277043.1:p.Ala377GlyfsTer?
NM_001354803.2:c.167_183del NP_001341732.1:p.Ala56GlyfsTer?
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