Canonical Allele Identifier: CA915948961

Gene: GCK

Linked Data

• ClinVar Variation Id: 817706
• ClinVar RCV Id: RCV001008916 ; RCV003313165 ; RCV002463772
• dbSNP Id: rs2096270755
• ERepo: CA915948961/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145273_44145282del , CM000669.2:g.44145273_44145282del	GRCh38
NC_000007.13:g.44184872_44184881del , CM000669.1:g.44184872_44184881del	GRCh37
NC_000007.12:g.44151397_44151406del	NCBI36
NG_008847.1:g.49145_49154del
NG_008847.2:g.57892_57901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1253_*1262del
ENST00000616242.5:c.*375_*384del
ENST00000683378.1:n.481_490del
ENST00000336642.9:c.289_298del
ENST00000345378.7:c.1258_1267del
ENST00000403799.8:c.1255_1264del
ENST00000671824.1:c.1318_1327del
ENST00000672743.1:n.267_276del
ENST00000673284.1:c.1255_1264del
ENST00000336642.8:c.307_316del
ENST00000345378.6:c.1258_1267del
ENST00000395796.7:c.1252_1261del
ENST00000403799.7:c.1255_1264del
ENST00000437084.1:c.1204_1213del
ENST00000459642.1:n.635_644del
ENST00000616242.4:c.1252_1261del
NM_000162.3:c.1255_1264del
NM_033507.1:c.1258_1267del
NM_033508.1:c.1252_1261del
NM_000162.4:c.1255_1264del
NM_001354800.1:c.1255_1264del
NM_001354801.1:c.244_253del
NM_001354802.1:c.115_124del
NM_001354803.1:c.289_298del
NM_033507.2:c.1258_1267del
NM_033508.2:c.1252_1261del
XM_024446707.1:c.115_124del
NM_000162.5:c.1255_1264del
NM_033507.3:c.1258_1267del
NM_033508.3:c.1252_1261del
NM_001354803.2:c.289_298del