Canonical Allele Identifier: CA915944914

Gene: GCK

Linked Data

• ClinVar Variation Id: 804843
• ClinVar RCV Id: RCV000992047 ; RCV002287452
• dbSNP Id: rs1583590383

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145177_44145188del , CM000669.2:g.44145177_44145188del	GRCh38
NC_000007.13:g.44184776_44184787del , CM000669.1:g.44184776_44184787del	GRCh37
NC_000007.12:g.44151301_44151312del	NCBI36
NG_008847.1:g.49240_49251del
NG_008847.2:g.57987_57998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1348_*1359del	ENSP00000379142.4:n.*1348_*1359del
ENST00000616242.5:c.*470_*481del	ENSP00000482149.2:n.*470_*481del
ENST00000683378.1:n.576_587del
ENST00000336642.9:c.384_395del	ENSP00000338009.5:p.Leu129_Ala132del
ENST00000345378.7:c.1353_1364del	ENSP00000223366.2:p.Leu452_Ala455del
ENST00000403799.8:c.1350_1361del MANE Select	ENSP00000384247.3:p.Leu451_Ala454del
ENST00000671824.1:c.1413_1424del	ENSP00000500264.1:p.Leu472_Ala475del
ENST00000672743.1:n.362_373del
ENST00000673284.1:c.1350_1361del	ENSP00000499852.1:p.Leu451_Ala454del
ENST00000336642.8:c.402_413del	ENSP00000338009.4:p.Leu135_Ala138del
ENST00000345378.6:c.1353_1364del	ENSP00000223366.2:p.Leu452_Ala455del
ENST00000395796.7:c.1347_1358del	ENSP00000379142.3:p.Leu450_Ala453del
ENST00000403799.7:c.1350_1361del	ENSP00000384247.3:p.Leu451_Ala454del
ENST00000437084.1:c.1299_1310del	ENSP00000402840.1:p.Leu434_Ala437del
ENST00000459642.1:n.730_741del
ENST00000616242.4:c.1347_1358del	ENSP00000482149.1:p.Leu450_Ala453del
NM_000162.3:c.1350_1361del	NP_000153.1:p.Leu451_Ala454del
NM_033507.1:c.1353_1364del	NP_277042.1:p.Leu452_Ala455del
NM_033508.1:c.1347_1358del	NP_277043.1:p.Leu450_Ala453del
NM_000162.4:c.1350_1361del	NP_000153.1:p.Leu451_Ala454del
NM_001354800.1:c.1350_1361del	NP_001341729.1:p.Leu451_Ala454del
NM_001354801.1:c.339_350del	NP_001341730.1:p.Leu114_Ala117del
NM_001354802.1:c.210_221del	NP_001341731.1:p.Leu71_Ala74del
NM_001354803.1:c.384_395del	NP_001341732.1:p.Leu129_Ala132del
NM_033507.2:c.1353_1364del	NP_277042.1:p.Leu452_Ala455del
NM_033508.2:c.1347_1358del	NP_277043.1:p.Leu450_Ala453del
XM_024446707.1:c.210_221del	XP_024302475.1:p.Leu71_Ala74del
NM_000162.5:c.1350_1361del MANE Select	NP_000153.1:p.Leu451_Ala454del
NM_033507.3:c.1353_1364del	NP_277042.1:p.Leu452_Ala455del
NM_033508.3:c.1347_1358del	NP_277043.1:p.Leu450_Ala453del
NM_001354803.2:c.384_395del	NP_001341732.1:p.Leu129_Ala132del