Canonical Allele Identifier: CA2842717604
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145478_44145479insCCCGCCCCGCTCTCTCCCTGGT , CM000669.2:g.44145478_44145479insCCCGCCCCGCTCTCTCCCTGGT GRCh38
NC_000007.13:g.44185077_44185078insCCCGCCCCGCTCTCTCCCTGGT , CM000669.1:g.44185077_44185078insCCCGCCCCGCTCTCTCCCTGGT GRCh37
NC_000007.12:g.44151602_44151603insCCCGCCCCGCTCTCTCCCTGGT NCBI36
NG_008847.1:g.48945_48946insACCAGGGAGAGAGCGGGGCGGG
NG_008847.2:g.57692_57693insACCAGGGAGAGAGCGGGGCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1251+18_*1251+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000379142.4:n.*1251+18_*1251+19insACCAGGGAGAGAGCGGGGCGG...
ENST00000616242.5:c.*373+18_*373+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000482149.2:n.*373+18_*373+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000683378.1:n.479+18_479+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000336642.9:c.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000338009.5:n.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000345378.7:c.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000223366.2:n.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000403799.8:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG MANE Select ENSP00000384247.3:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000671824.1:c.1316+18_1316+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000500264.1:n.1316+18_1316+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000672743.1:n.265+18_265+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000673284.1:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000499852.1:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000336642.8:c.305+18_305+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000338009.4:n.305+18_305+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000345378.6:c.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000223366.2:n.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000395796.7:c.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000379142.3:n.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000403799.7:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000384247.3:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000437084.1:c.1202+18_1202+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000402840.1:n.1202+18_1202+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000459642.1:n.633+18_633+19insACCAGGGAGAGAGCGGGGCGGG
ENST00000616242.4:c.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG ENSP00000482149.1:n.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG
NM_000162.3:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG NP_000153.1:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
NM_033507.1:c.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG NP_277042.1:n.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG
NM_033508.1:c.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG NP_277043.1:n.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG
NM_000162.4:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG NP_000153.1:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
NM_001354800.1:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG NP_001341729.1:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
NM_001354801.1:c.242+18_242+19insACCAGGGAGAGAGCGGGGCGGG NP_001341730.1:n.242+18_242+19insACCAGGGAGAGAGCGGGGCGGG
NM_001354802.1:c.113+18_113+19insACCAGGGAGAGAGCGGGGCGGG NP_001341731.1:n.113+18_113+19insACCAGGGAGAGAGCGGGGCGGG
NM_001354803.1:c.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG NP_001341732.1:n.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG
NM_033507.2:c.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG NP_277042.1:n.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG
NM_033508.2:c.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG NP_277043.1:n.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG
XM_024446707.1:c.113+18_113+19insACCAGGGAGAGAGCGGGGCGGG XP_024302475.1:n.113+18_113+19insACCAGGGAGAGAGCGGGGCGGG
NM_000162.5:c.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG MANE Select NP_000153.1:n.1253+18_1253+19insACCAGGGAGAGAGCGGGGCGGG
NM_033507.3:c.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG NP_277042.1:n.1256+18_1256+19insACCAGGGAGAGAGCGGGGCGGG
NM_033508.3:c.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG NP_277043.1:n.1250+18_1250+19insACCAGGGAGAGAGCGGGGCGGG
NM_001354803.2:c.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG NP_001341732.1:n.287+18_287+19insACCAGGGAGAGAGCGGGGCGGG