Canonical Allele Identifier: CA2017997776

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571646
• ClinVar RCV Id: RCV003313356
• ERepo: CA2017997776/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145176_44145192del , CM000669.2:g.44145176_44145192del	GRCh38
NC_000007.13:g.44184775_44184791del , CM000669.1:g.44184775_44184791del	GRCh37
NC_000007.12:g.44151300_44151316del	NCBI36
NG_008847.1:g.49236_49252del
NG_008847.2:g.57983_57999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1344_*1360del	ENSP00000379142.4:n.*1344_*1360del
ENST00000616242.5:c.*466_*482del	ENSP00000482149.2:n.*466_*482del
ENST00000683378.1:n.572_588del
ENST00000336642.9:c.380_396del	ENSP00000338009.5:p.Ala127GlyfsTer4
ENST00000345378.7:c.1349_1365del	ENSP00000223366.2:p.Ala450GlyfsTer4
ENST00000403799.8:c.1346_1362del MANE Select	ENSP00000384247.3:p.Ala449GlyfsTer4
ENST00000671824.1:c.1409_1425del	ENSP00000500264.1:p.Ala470GlyfsTer4
ENST00000672743.1:n.358_374del
ENST00000673284.1:c.1346_1362del	ENSP00000499852.1:p.Ala449GlyfsTer17
ENST00000336642.8:c.398_414del	ENSP00000338009.4:p.Ala133GlyfsTer4
ENST00000345378.6:c.1349_1365del	ENSP00000223366.2:p.Ala450GlyfsTer4
ENST00000395796.7:c.1343_1359del	ENSP00000379142.3:p.Ala448GlyfsTer4
ENST00000403799.7:c.1346_1362del	ENSP00000384247.3:p.Ala449GlyfsTer4
ENST00000437084.1:c.1295_1311del	ENSP00000402840.1:p.Ala432GlyfsTer4
ENST00000459642.1:n.726_742del
ENST00000616242.4:c.1343_1359del	ENSP00000482149.1:p.Ala448GlyfsTer4
NM_000162.3:c.1346_1362del	NP_000153.1:p.Ala449GlyfsTer4
NM_033507.1:c.1349_1365del	NP_277042.1:p.Ala450GlyfsTer4
NM_033508.1:c.1343_1359del	NP_277043.1:p.Ala448GlyfsTer4
NM_000162.4:c.1346_1362del	NP_000153.1:p.Ala449GlyfsTer4
NM_001354800.1:c.1346_1362del	NP_001341729.1:p.Ala449GlyfsTer17
NM_001354801.1:c.335_351del	NP_001341730.1:p.Ala112GlyfsTer4
NM_001354802.1:c.206_222del	NP_001341731.1:p.Ala69GlyfsTer17
NM_001354803.1:c.380_396del	NP_001341732.1:p.Ala127GlyfsTer4
NM_033507.2:c.1349_1365del	NP_277042.1:p.Ala450GlyfsTer4
NM_033508.2:c.1343_1359del	NP_277043.1:p.Ala448GlyfsTer4
XM_024446707.1:c.206_222del	XP_024302475.1:p.Ala69GlyfsTer4
NM_000162.5:c.1346_1362del MANE Select	NP_000153.1:p.Ala449GlyfsTer4
NM_033507.3:c.1349_1365del	NP_277042.1:p.Ala450GlyfsTer4
NM_033508.3:c.1343_1359del	NP_277043.1:p.Ala448GlyfsTer4
NM_001354803.2:c.380_396del	NP_001341732.1:p.Ala127GlyfsTer4