Canonical Allele Identifier: CA2580615879
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1920726
ClinVar RCV Id: RCV002604226 RCV004065743
gnomAD v4: 7-44145562-G-GCT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145566_44145567dup , CM000669.2:g.44145566_44145567dup GRCh38
NC_000007.13:g.44185165_44185166dup , CM000669.1:g.44185165_44185166dup GRCh37
NC_000007.12:g.44151690_44151691dup NCBI36
NG_008847.1:g.48860_48861dup
NG_008847.2:g.57607_57608dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1184_*1185dup ENSP00000379142.4:n.*1184_*1185dup
ENST00000616242.5:c.*306_*307dup ENSP00000482149.2:n.*306_*307dup
ENST00000683378.1:n.412_413dup
ENST00000336642.9:c.220_221dup ENSP00000338009.5:p.Ser74ArgfsTer7
ENST00000345378.7:c.1189_1190dup ENSP00000223366.2:p.Ser397ArgfsTer7
ENST00000403799.8:c.1186_1187dup MANE Select ENSP00000384247.3:p.Ser396ArgfsTer7
ENST00000671824.1:c.1249_1250dup ENSP00000500264.1:p.Ser417ArgfsTer7
ENST00000672743.1:n.198_199dup
ENST00000673284.1:c.1186_1187dup ENSP00000499852.1:p.Ser396ArgfsTer7
ENST00000336642.8:c.238_239dup ENSP00000338009.4:p.Ser80ArgfsTer7
ENST00000345378.6:c.1189_1190dup ENSP00000223366.2:p.Ser397ArgfsTer7
ENST00000395796.7:c.1183_1184dup ENSP00000379142.3:p.Ser395ArgfsTer7
ENST00000403799.7:c.1186_1187dup ENSP00000384247.3:p.Ser396ArgfsTer7
ENST00000437084.1:c.1135_1136dup ENSP00000402840.1:p.Ser379ArgfsTer7
ENST00000459642.1:n.566_567dup
ENST00000616242.4:c.1183_1184dup ENSP00000482149.1:p.Ser395ArgfsTer7
NM_000162.3:c.1186_1187dup NP_000153.1:p.Ser396ArgfsTer7
NM_033507.1:c.1189_1190dup NP_277042.1:p.Ser397ArgfsTer7
NM_033508.1:c.1183_1184dup NP_277043.1:p.Ser395ArgfsTer7
NM_000162.4:c.1186_1187dup NP_000153.1:p.Ser396ArgfsTer7
NM_001354800.1:c.1186_1187dup NP_001341729.1:p.Ser396ArgfsTer7
NM_001354801.1:c.175_176dup NP_001341730.1:p.Ser59ArgfsTer7
NM_001354802.1:c.46_47dup NP_001341731.1:p.Ser16ArgfsTer7
NM_001354803.1:c.220_221dup NP_001341732.1:p.Ser74ArgfsTer7
NM_033507.2:c.1189_1190dup NP_277042.1:p.Ser397ArgfsTer7
NM_033508.2:c.1183_1184dup NP_277043.1:p.Ser395ArgfsTer7
XM_024446707.1:c.46_47dup XP_024302475.1:p.Ser16ArgfsTer7
NM_000162.5:c.1186_1187dup MANE Select NP_000153.1:p.Ser396ArgfsTer7
NM_033507.3:c.1189_1190dup NP_277042.1:p.Ser397ArgfsTer7
NM_033508.3:c.1183_1184dup NP_277043.1:p.Ser395ArgfsTer7
NM_001354803.2:c.220_221dup NP_001341732.1:p.Ser74ArgfsTer7
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