Canonical Allele Identifier: CA2580618176
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2580865
ClinVar RCV Id: RCV003330060

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145489_44145563dup , CM000669.2:g.44145489_44145563dup GRCh38
NC_000007.13:g.44185088_44185162dup , CM000669.1:g.44185088_44185162dup GRCh37
NC_000007.12:g.44151613_44151687dup NCBI36
NG_008847.1:g.48864_48938dup
NG_008847.2:g.57611_57685dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1188_*1251+11dup
ENST00000616242.5:c.*310_*373+11dup
ENST00000683378.1:n.416_479+11dup
ENST00000336642.9:c.224_287+11dup
ENST00000345378.7:c.1193_1256+11dup
ENST00000403799.8:c.1190_1253+11dup
ENST00000671824.1:c.1253_1316+11dup
ENST00000672743.1:n.202_265+11dup
ENST00000673284.1:c.1190_1253+11dup
ENST00000336642.8:c.242_305+11dup
ENST00000345378.6:c.1193_1256+11dup
ENST00000395796.7:c.1187_1250+11dup
ENST00000403799.7:c.1190_1253+11dup
ENST00000437084.1:c.1139_1202+11dup
ENST00000459642.1:n.570_633+11dup
ENST00000616242.4:c.1187_1250+11dup
NM_000162.3:c.1190_1253+11dup
NM_033507.1:c.1193_1256+11dup
NM_033508.1:c.1187_1250+11dup
NM_000162.4:c.1190_1253+11dup
NM_001354800.1:c.1190_1253+11dup
NM_001354801.1:c.179_242+11dup
NM_001354802.1:c.50_113+11dup
NM_001354803.1:c.224_287+11dup
NM_033507.2:c.1193_1256+11dup
NM_033508.2:c.1187_1250+11dup
XM_024446707.1:c.50_113+11dup
NM_000162.5:c.1190_1253+11dup
NM_033507.3:c.1193_1256+11dup
NM_033508.3:c.1187_1250+11dup
NM_001354803.2:c.224_287+11dup