Canonical Allele Identifier: CA838788768
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1365679
ClinVar RCV Id: RCV001961876 RCV003326004
dbSNP Id: rs1339598338
MyVariant Identifiers: chr7:g.44184765_44184793del (hg19) chr7:g.44145166_44145194del (hg38)
ERepo: CA838788768/MONDO:0015967/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145172_44145200del , CM000669.2:g.44145172_44145200del GRCh38
NC_000007.13:g.44184771_44184799del , CM000669.1:g.44184771_44184799del GRCh37
NC_000007.12:g.44151296_44151324del NCBI36
NG_008847.1:g.49230_49258del
NG_008847.2:g.57977_58005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1338_*1366del ENSP00000379142.4:n.*1338_*1366del
ENST00000616242.5:c.*460_*488del ENSP00000482149.2:n.*460_*488del
ENST00000683378.1:n.566_594del
ENST00000336642.9:c.374_402del ENSP00000338009.5:p.Arg125LeufsTer2
ENST00000345378.7:c.1343_1371del ENSP00000223366.2:p.Arg448LeufsTer2
ENST00000403799.8:c.1340_1368del MANE Select ENSP00000384247.3:p.Arg447LeufsTer2
ENST00000671824.1:c.1403_1431del ENSP00000500264.1:p.Arg468LeufsTer2
ENST00000672743.1:n.352_380del
ENST00000673284.1:c.1340_1368del ENSP00000499852.1:p.Arg447LeufsTer15
ENST00000336642.8:c.392_420del ENSP00000338009.4:p.Arg131LeufsTer2
ENST00000345378.6:c.1343_1371del ENSP00000223366.2:p.Arg448LeufsTer2
ENST00000395796.7:c.1337_1365del ENSP00000379142.3:p.Arg446LeufsTer2
ENST00000403799.7:c.1340_1368del ENSP00000384247.3:p.Arg447LeufsTer2
ENST00000437084.1:c.1289_1317del ENSP00000402840.1:p.Arg430LeufsTer2
ENST00000459642.1:n.720_748del
ENST00000616242.4:c.1337_1365del ENSP00000482149.1:p.Arg446LeufsTer2
NM_000162.3:c.1340_1368del NP_000153.1:p.Arg447LeufsTer2
NM_033507.1:c.1343_1371del NP_277042.1:p.Arg448LeufsTer2
NM_033508.1:c.1337_1365del NP_277043.1:p.Arg446LeufsTer2
NM_000162.4:c.1340_1368del NP_000153.1:p.Arg447LeufsTer2
NM_001354800.1:c.1340_1368del NP_001341729.1:p.Arg447LeufsTer15
NM_001354801.1:c.329_357del NP_001341730.1:p.Arg110LeufsTer2
NM_001354802.1:c.200_228del NP_001341731.1:p.Arg67LeufsTer15
NM_001354803.1:c.374_402del NP_001341732.1:p.Arg125LeufsTer2
NM_033507.2:c.1343_1371del NP_277042.1:p.Arg448LeufsTer2
NM_033508.2:c.1337_1365del NP_277043.1:p.Arg446LeufsTer2
XM_024446707.1:c.200_228del XP_024302475.1:p.Arg67LeufsTer2
NM_000162.5:c.1340_1368del MANE Select NP_000153.1:p.Arg447LeufsTer2
NM_033507.3:c.1343_1371del NP_277042.1:p.Arg448LeufsTer2
NM_033508.3:c.1337_1365del NP_277043.1:p.Arg446LeufsTer2
NM_001354803.2:c.374_402del NP_001341732.1:p.Arg125LeufsTer2
Search 100 bp 5'
Search 100 bp 3'