Canonical Allele Identifier: CA213744
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36191
ClinVar RCV Id: RCV000029854 RCV002287344 RCV003313031
dbSNP Id: rs193922275
MyVariant Identifiers: chr7:g.44184849_44184850del (hg19) chr7:g.44145250_44145251del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145252_44145253del , CM000669.2:g.44145252_44145253del GRCh38
NC_000007.13:g.44184851_44184852del , CM000669.1:g.44184851_44184852del GRCh37
NC_000007.12:g.44151376_44151377del NCBI36
NG_008847.1:g.49173_49174del
NG_008847.2:g.57920_57921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1281_*1282del ENSP00000379142.4:n.*1281_*1282del
ENST00000616242.5:c.*403_*404del ENSP00000482149.2:n.*403_*404del
ENST00000683378.1:n.509_510del
ENST00000336642.9:c.317_318del ENSP00000338009.5:p.Arg106GlnfsTer30
ENST00000345378.7:c.1286_1287del ENSP00000223366.2:p.Arg429GlnfsTer30
ENST00000403799.8:c.1283_1284del MANE Select ENSP00000384247.3:p.Arg428GlnfsTer30
ENST00000671824.1:c.1346_1347del ENSP00000500264.1:p.Arg449GlnfsTer30
ENST00000672743.1:n.295_296del
ENST00000673284.1:c.1283_1284del ENSP00000499852.1:p.Arg428GlnfsTer?
ENST00000336642.8:c.335_336del ENSP00000338009.4:p.Arg112GlnfsTer30
ENST00000345378.6:c.1286_1287del ENSP00000223366.2:p.Arg429GlnfsTer30
ENST00000395796.7:c.1280_1281del ENSP00000379142.3:p.Arg427GlnfsTer30
ENST00000403799.7:c.1283_1284del ENSP00000384247.3:p.Arg428GlnfsTer30
ENST00000437084.1:c.1232_1233del ENSP00000402840.1:p.Arg411GlnfsTer30
ENST00000459642.1:n.663_664del
ENST00000616242.4:c.1280_1281del ENSP00000482149.1:p.Arg427GlnfsTer30
NM_000162.3:c.1283_1284del NP_000153.1:p.Arg428GlnfsTer30
NM_033507.1:c.1286_1287del NP_277042.1:p.Arg429GlnfsTer30
NM_033508.1:c.1280_1281del NP_277043.1:p.Arg427GlnfsTer30
NM_000162.4:c.1283_1284del NP_000153.1:p.Arg428GlnfsTer30
NM_001354800.1:c.1283_1284del NP_001341729.1:p.Arg428GlnfsTer?
NM_001354801.1:c.272_273del NP_001341730.1:p.Arg91GlnfsTer30
NM_001354802.1:c.143_144del NP_001341731.1:p.Arg48GlnfsTer?
NM_001354803.1:c.317_318del NP_001341732.1:p.Arg106GlnfsTer30
NM_033507.2:c.1286_1287del NP_277042.1:p.Arg429GlnfsTer30
NM_033508.2:c.1280_1281del NP_277043.1:p.Arg427GlnfsTer30
XM_024446707.1:c.143_144del XP_024302475.1:p.Arg48GlnfsTer30
NM_000162.5:c.1283_1284del MANE Select NP_000153.1:p.Arg428GlnfsTer30
NM_033507.3:c.1286_1287del NP_277042.1:p.Arg429GlnfsTer30
NM_033508.3:c.1280_1281del NP_277043.1:p.Arg427GlnfsTer30
NM_001354803.2:c.317_318del NP_001341732.1:p.Arg106GlnfsTer30
Search 100 bp 5'
Search 100 bp 3'