Canonical Allele Identifier: CA2499218894

Gene: GCK

Linked Data

• ClinVar Variation Id: 1256313
• ClinVar RCV Id: RCV001663655
• dbSNP Id: rs2128819145

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145532_44145534dup , CM000669.2:g.44145532_44145534dup	GRCh38
NC_000007.13:g.44185131_44185133dup , CM000669.1:g.44185131_44185133dup	GRCh37
NC_000007.12:g.44151656_44151658dup	NCBI36
NG_008847.1:g.48891_48893dup
NG_008847.2:g.57638_57640dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1215_*1217dup	ENSP00000379142.4:n.*1215_*1217dup
ENST00000616242.5:c.*337_*339dup	ENSP00000482149.2:n.*337_*339dup
ENST00000683378.1:n.443_445dup
ENST00000336642.9:c.251_253dup	ENSP00000338009.5:p.Val84_Gly85insVal
ENST00000345378.7:c.1220_1222dup	ENSP00000223366.2:p.Val407_Gly408insVal
ENST00000403799.8:c.1217_1219dup MANE Select	ENSP00000384247.3:p.Val406_Gly407insVal
ENST00000671824.1:c.1280_1282dup	ENSP00000500264.1:p.Val427_Gly428insVal
ENST00000672743.1:n.229_231dup
ENST00000673284.1:c.1217_1219dup	ENSP00000499852.1:p.Val406_Gly407insVal
ENST00000336642.8:c.269_271dup	ENSP00000338009.4:p.Val90_Gly91insVal
ENST00000345378.6:c.1220_1222dup	ENSP00000223366.2:p.Val407_Gly408insVal
ENST00000395796.7:c.1214_1216dup	ENSP00000379142.3:p.Val405_Gly406insVal
ENST00000403799.7:c.1217_1219dup	ENSP00000384247.3:p.Val406_Gly407insVal
ENST00000437084.1:c.1166_1168dup	ENSP00000402840.1:p.Val389_Gly390insVal
ENST00000459642.1:n.597_599dup
ENST00000616242.4:c.1214_1216dup	ENSP00000482149.1:p.Val405_Gly406insVal
NM_000162.3:c.1217_1219dup	NP_000153.1:p.Val406_Gly407insVal
NM_033507.1:c.1220_1222dup	NP_277042.1:p.Val407_Gly408insVal
NM_033508.1:c.1214_1216dup	NP_277043.1:p.Val405_Gly406insVal
NM_000162.4:c.1217_1219dup	NP_000153.1:p.Val406_Gly407insVal
NM_001354800.1:c.1217_1219dup	NP_001341729.1:p.Val406_Gly407insVal
NM_001354801.1:c.206_208dup	NP_001341730.1:p.Val69_Gly70insVal
NM_001354802.1:c.77_79dup	NP_001341731.1:p.Val26_Gly27insVal
NM_001354803.1:c.251_253dup	NP_001341732.1:p.Val84_Gly85insVal
NM_033507.2:c.1220_1222dup	NP_277042.1:p.Val407_Gly408insVal
NM_033508.2:c.1214_1216dup	NP_277043.1:p.Val405_Gly406insVal
XM_024446707.1:c.77_79dup	XP_024302475.1:p.Val26_Gly27insVal
NM_000162.5:c.1217_1219dup MANE Select	NP_000153.1:p.Val406_Gly407insVal
NM_033507.3:c.1220_1222dup	NP_277042.1:p.Val407_Gly408insVal
NM_033508.3:c.1214_1216dup	NP_277043.1:p.Val405_Gly406insVal
NM_001354803.2:c.251_253dup	NP_001341732.1:p.Val84_Gly85insVal