Canonical Allele Identifier: CA2573142177
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1452802
ClinVar RCV Id: RCV001999987

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145170_44145588del , CM000669.2:g.44145170_44145588del GRCh38
NC_000007.13:g.44184769_44185187del , CM000669.1:g.44184769_44185187del GRCh37
NC_000007.12:g.44151294_44151712del NCBI36
NG_008847.1:g.48839_49257del
NG_008847.2:g.57586_58004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1163_*1365del
ENST00000616242.5:c.*285_*487del
ENST00000683378.1:n.391_593del
ENST00000336642.9:c.199_401del
ENST00000345378.7:c.1168_1370del
ENST00000403799.8:c.1165_1367del
ENST00000671824.1:c.1228_1430del
ENST00000672743.1:n.177_379del
ENST00000673284.1:c.1165_1367del
ENST00000336642.8:c.217_419del
ENST00000345378.6:c.1168_1370del
ENST00000395796.7:c.1162_1364del
ENST00000403799.7:c.1165_1367del
ENST00000437084.1:c.1114_1316del
ENST00000459642.1:n.545_747del
ENST00000616242.4:c.1162_1364del
NM_000162.3:c.1165_1367del
NM_033507.1:c.1168_1370del
NM_033508.1:c.1162_1364del
NM_000162.4:c.1165_1367del
NM_001354800.1:c.1165_1367del
NM_001354801.1:c.154_356del
NM_001354802.1:c.25_227del
NM_001354803.1:c.199_401del
NM_033507.2:c.1168_1370del
NM_033508.2:c.1162_1364del
XM_024446707.1:c.25_227del
NM_000162.5:c.1165_1367del
NM_033507.3:c.1168_1370del
NM_033508.3:c.1162_1364del
NM_001354803.2:c.199_401del