Canonical Allele Identifier: CA2497028747

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571647
• ClinVar RCV Id: RCV003313357
• ERepo: CA2497028747/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145134_44145155del , CM000669.2:g.44145134_44145155del	GRCh38
NC_000007.13:g.44184733_44184754del , CM000669.1:g.44184733_44184754del	GRCh37
NC_000007.12:g.44151258_44151279del	NCBI36
NG_008847.1:g.49269_49290del
NG_008847.2:g.58016_58037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1377_*1398del	ENSP00000379142.4:n.*1377_*1398del
ENST00000616242.5:c.*499_*520del	ENSP00000482149.2:n.*499_*520del
ENST00000683378.1:n.605_626del
ENST00000336642.9:c.413_*2del	ENSP00000338009.5:n.[c.413_*2del;Ala138GlyfsTer?]
ENST00000345378.7:c.1382_*2del	ENSP00000223366.2:n.[c.1382_*2del;Ala461GlyfsTer?]
ENST00000403799.8:c.1379_*2del MANE Select	ENSP00000384247.3:n.[c.1379_*2del;Ala460GlyfsTer?]
ENST00000671824.1:c.1442_*2del	ENSP00000500264.1:n.[c.1442_*2del;Ala481GlyfsTer?]
ENST00000672743.1:n.381+10_381+31del
ENST00000673284.1:c.1369+10_1369+31del	ENSP00000499852.1:n.1369+10_1369+31del
ENST00000336642.8:c.431_452del	ENSP00000338009.4:n.[c.431_452del;Ala144GlyfsTer?]
ENST00000345378.6:c.1382_*2del	ENSP00000223366.2:n.[c.1382_*2del;Ala461GlyfsTer?]
ENST00000395796.7:c.1376_*2del	ENSP00000379142.3:n.[c.1376_*2del;Ala459GlyfsTer?]
ENST00000403799.7:c.1379_*2del	ENSP00000384247.3:n.[c.1379_*2del;Ala460GlyfsTer?]
ENST00000437084.1:c.1328_*2del	ENSP00000402840.1:n.[c.1328_*2del;Ala443GlyfsTer?]
ENST00000459642.1:n.759_780del
ENST00000616242.4:c.1376_1397del	ENSP00000482149.1:n.[c.1376_1397del;Ala459GlyfsTer?]
NM_000162.3:c.1379_*2del	NP_000153.1:n.[c.1379_*2del;Ala460GlyfsTer?]
NM_033507.1:c.1382_*2del	NP_277042.1:n.[c.1382_*2del;Ala461GlyfsTer?]
NM_033508.1:c.1376_*2del	NP_277043.1:n.[c.1376_*2del;Ala459GlyfsTer?]
NM_000162.4:c.1379_*2del	NP_000153.1:n.[c.1379_*2del;Ala460GlyfsTer?]
NM_001354800.1:c.1369+10_1369+31del	NP_001341729.1:n.1369+10_1369+31del
NM_001354801.1:c.368_*2del	NP_001341730.1:n.[c.368_*2del;Ala123GlyfsTer?]
NM_001354802.1:c.229+10_229+31del	NP_001341731.1:n.229+10_229+31del
NM_001354803.1:c.413_*2del	NP_001341732.1:n.[c.413_*2del;Ala138GlyfsTer?]
NM_033507.2:c.1382_*2del	NP_277042.1:n.[c.1382_*2del;Ala461GlyfsTer?]
NM_033508.2:c.1376_*2del	NP_277043.1:n.[c.1376_*2del;Ala459GlyfsTer?]
XM_024446707.1:c.239_*2del	XP_024302475.1:n.[c.239_*2del;Ala80GlyfsTer?]
NM_000162.5:c.1379_*2del MANE Select	NP_000153.1:n.[c.1379_*2del;Ala460GlyfsTer?]
NM_033507.3:c.1382_*2del	NP_277042.1:n.[c.1382_*2del;Ala461GlyfsTer?]
NM_033508.3:c.1376_*2del	NP_277043.1:n.[c.1376_*2del;Ala459GlyfsTer?]
NM_001354803.2:c.413_*2del	NP_001341732.1:n.[c.413_*2del;Ala138GlyfsTer?]