Canonical Allele Identifier: CA2580617739

Gene: GCK

Linked Data

• ClinVar Variation Id: 2664363
• ClinVar RCV Id: RCV003445461 ; RCV003479522
• ERepo: CA2580617739/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145227_44145238del , CM000669.2:g.44145227_44145238del	GRCh38
NC_000007.13:g.44184826_44184837del , CM000669.1:g.44184826_44184837del	GRCh37
NC_000007.12:g.44151351_44151362del	NCBI36
NG_008847.1:g.49188_49199del
NG_008847.2:g.57935_57946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1296_*1307del	ENSP00000379142.4:n.*1296_*1307del
ENST00000616242.5:c.*418_*429del	ENSP00000482149.2:n.*418_*429del
ENST00000683378.1:n.524_535del
ENST00000336642.9:c.332_343del	ENSP00000338009.5:p.Ser111_Ile114del
ENST00000345378.7:c.1301_1312del	ENSP00000223366.2:p.Ser434_Ile437del
ENST00000403799.8:c.1298_1309del MANE Select	ENSP00000384247.3:p.Ser433_Ile436del
ENST00000671824.1:c.1361_1372del	ENSP00000500264.1:p.Ser454_Ile457del
ENST00000672743.1:n.310_321del
ENST00000673284.1:c.1298_1309del	ENSP00000499852.1:p.Ser433_Ile436del
ENST00000336642.8:c.350_361del	ENSP00000338009.4:p.Ser117_Ile120del
ENST00000345378.6:c.1301_1312del	ENSP00000223366.2:p.Ser434_Ile437del
ENST00000395796.7:c.1295_1306del	ENSP00000379142.3:p.Ser432_Ile435del
ENST00000403799.7:c.1298_1309del	ENSP00000384247.3:p.Ser433_Ile436del
ENST00000437084.1:c.1247_1258del	ENSP00000402840.1:p.Ser416_Ile419del
ENST00000459642.1:n.678_689del
ENST00000616242.4:c.1295_1306del	ENSP00000482149.1:p.Ser432_Ile435del
NM_000162.3:c.1298_1309del	NP_000153.1:p.Ser433_Ile436del
NM_033507.1:c.1301_1312del	NP_277042.1:p.Ser434_Ile437del
NM_033508.1:c.1295_1306del	NP_277043.1:p.Ser432_Ile435del
NM_000162.4:c.1298_1309del	NP_000153.1:p.Ser433_Ile436del
NM_001354800.1:c.1298_1309del	NP_001341729.1:p.Ser433_Ile436del
NM_001354801.1:c.287_298del	NP_001341730.1:p.Ser96_Ile99del
NM_001354802.1:c.158_169del	NP_001341731.1:p.Ser53_Ile56del
NM_001354803.1:c.332_343del	NP_001341732.1:p.Ser111_Ile114del
NM_033507.2:c.1301_1312del	NP_277042.1:p.Ser434_Ile437del
NM_033508.2:c.1295_1306del	NP_277043.1:p.Ser432_Ile435del
XM_024446707.1:c.158_169del	XP_024302475.1:p.Ser53_Ile56del
NM_000162.5:c.1298_1309del MANE Select	NP_000153.1:p.Ser433_Ile436del
NM_033507.3:c.1301_1312del	NP_277042.1:p.Ser434_Ile437del
NM_033508.3:c.1295_1306del	NP_277043.1:p.Ser432_Ile435del
NM_001354803.2:c.332_343del	NP_001341732.1:p.Ser111_Ile114del