Canonical Allele Identifier: CA2573102977

Gene: GCK

Linked Data

• ClinVar Variation Id: 2505488
• ClinVar RCV Id: RCV003234756
• ERepo: CA2573102977/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145142_44145143del , CM000669.2:g.44145142_44145143del	GRCh38
NC_000007.13:g.44184741_44184742del , CM000669.1:g.44184741_44184742del	GRCh37
NC_000007.12:g.44151266_44151267del	NCBI36
NG_008847.1:g.49281_49282del
NG_008847.2:g.58028_58029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1389_*1390del	ENSP00000379142.4:n.*1389_*1390del
ENST00000616242.5:c.*511_*512del	ENSP00000482149.2:n.*511_*512del
ENST00000683378.1:n.617_618del
ENST00000336642.9:c.425_426del	ENSP00000338009.5:p.Gly142AlafsTer?
ENST00000345378.7:c.1394_1395del	ENSP00000223366.2:p.Gly465AlafsTer?
ENST00000403799.8:c.1391_1392del MANE Select	ENSP00000384247.3:p.Gly464AlafsTer?
ENST00000671824.1:c.1454_1455del	ENSP00000500264.1:p.Gly485AlafsTer?
ENST00000672743.1:n.381+22_381+23del
ENST00000673284.1:c.1369+22_1369+23del	ENSP00000499852.1:n.1369+22_1369+23del
ENST00000336642.8:c.443_444del	ENSP00000338009.4:p.Gly148AlafsTer?
ENST00000345378.6:c.1394_1395del	ENSP00000223366.2:p.Gly465AlafsTer?
ENST00000395796.7:c.1388_1389del	ENSP00000379142.3:p.Gly463AlafsTer?
ENST00000403799.7:c.1391_1392del	ENSP00000384247.3:p.Gly464AlafsTer?
ENST00000437084.1:c.1340_1341del	ENSP00000402840.1:p.Gly447AlafsTer?
ENST00000459642.1:n.771_772del
ENST00000616242.4:c.1388_1389del	ENSP00000482149.1:p.Gly463AlafsTer?
NM_000162.3:c.1391_1392del	NP_000153.1:p.Gly464AlafsTer?
NM_033507.1:c.1394_1395del	NP_277042.1:p.Gly465AlafsTer?
NM_033508.1:c.1388_1389del	NP_277043.1:p.Gly463AlafsTer?
NM_000162.4:c.1391_1392del	NP_000153.1:p.Gly464AlafsTer?
NM_001354800.1:c.1369+22_1369+23del	NP_001341729.1:n.1369+22_1369+23del
NM_001354801.1:c.380_381del	NP_001341730.1:p.Gly127AlafsTer?
NM_001354802.1:c.229+22_229+23del	NP_001341731.1:n.229+22_229+23del
NM_001354803.1:c.425_426del	NP_001341732.1:p.Gly142AlafsTer?
NM_033507.2:c.1394_1395del	NP_277042.1:p.Gly465AlafsTer?
NM_033508.2:c.1388_1389del	NP_277043.1:p.Gly463AlafsTer?
XM_024446707.1:c.251_252del	XP_024302475.1:p.Gly84AlafsTer?
NM_000162.5:c.1391_1392del MANE Select	NP_000153.1:p.Gly464AlafsTer?
NM_033507.3:c.1394_1395del	NP_277042.1:p.Gly465AlafsTer?
NM_033508.3:c.1388_1389del	NP_277043.1:p.Gly463AlafsTer?
NM_001354803.2:c.425_426del	NP_001341732.1:p.Gly142AlafsTer?