Canonical Allele Identifier: CA2580077154
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1731302
ClinVar RCV Id: RCV002456979 RCV003560948
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145608_44145609del , CM000669.2:g.44145608_44145609del GRCh38
NC_000007.13:g.44185207_44185208del , CM000669.1:g.44185207_44185208del GRCh37
NC_000007.12:g.44151732_44151733del NCBI36
NG_008847.1:g.48815_48816del
NG_008847.2:g.57562_57563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1139_*1140del ENSP00000379142.4:n.*1139_*1140del
ENST00000616242.5:c.*261_*262del ENSP00000482149.2:n.*261_*262del
ENST00000683378.1:n.367_368del
ENST00000336642.9:c.175_176del ENSP00000338009.5:p.Met59ValfsTer?
ENST00000345378.7:c.1144_1145del ENSP00000223366.2:p.Met382ValfsTer?
ENST00000403799.8:c.1141_1142del MANE Select ENSP00000384247.3:p.Met381ValfsTer?
ENST00000671824.1:c.1204_1205del ENSP00000500264.1:p.Met402ValfsTer?
ENST00000672743.1:n.153_154del
ENST00000673284.1:c.1141_1142del ENSP00000499852.1:p.Met381ValfsTer?
ENST00000336642.8:c.193_194del ENSP00000338009.4:p.Met65ValfsTer?
ENST00000345378.6:c.1144_1145del ENSP00000223366.2:p.Met382ValfsTer?
ENST00000395796.7:c.1138_1139del ENSP00000379142.3:p.Met380ValfsTer?
ENST00000403799.7:c.1141_1142del ENSP00000384247.3:p.Met381ValfsTer?
ENST00000437084.1:c.1090_1091del ENSP00000402840.1:p.Met364ValfsTer?
ENST00000459642.1:n.521_522del
ENST00000616242.4:c.1138_1139del ENSP00000482149.1:p.Met380ValfsTer?
NM_000162.3:c.1141_1142del NP_000153.1:p.Met381ValfsTer?
NM_033507.1:c.1144_1145del NP_277042.1:p.Met382ValfsTer?
NM_033508.1:c.1138_1139del NP_277043.1:p.Met380ValfsTer?
NM_000162.4:c.1141_1142del NP_000153.1:p.Met381ValfsTer?
NM_001354800.1:c.1141_1142del NP_001341729.1:p.Met381ValfsTer?
NM_001354801.1:c.130_131del NP_001341730.1:p.Met44ValfsTer?
NM_001354802.1:c.1_2del NP_001341731.1:p.Met1ValfsTer?
NM_001354803.1:c.175_176del NP_001341732.1:p.Met59ValfsTer?
NM_033507.2:c.1144_1145del NP_277042.1:p.Met382ValfsTer?
NM_033508.2:c.1138_1139del NP_277043.1:p.Met380ValfsTer?
XM_024446707.1:c.1_2del XP_024302475.1:p.Met1ValfsTer?
NM_000162.5:c.1141_1142del MANE Select NP_000153.1:p.Met381ValfsTer?
NM_033507.3:c.1144_1145del NP_277042.1:p.Met382ValfsTer?
NM_033508.3:c.1138_1139del NP_277043.1:p.Met380ValfsTer?
NM_001354803.2:c.175_176del NP_001341732.1:p.Met59ValfsTer?
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