Canonical Allele Identifier: CA915944915

Gene: GCK

Linked Data

• ClinVar Variation Id: 804844
• ClinVar RCV Id: RCV000992048 ; RCV002287453 ; RCV003313161
• dbSNP Id: rs1583590393
• gnomAD v4: 7-44145173-GC-G
• ERepo: CA915944915/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145175del , CM000669.2:g.44145175del	GRCh38
NC_000007.13:g.44184774del , CM000669.1:g.44184774del	GRCh37
NC_000007.12:g.44151299del	NCBI36
NG_008847.1:g.49250del
NG_008847.2:g.57997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1358del	ENSP00000379142.4:n.*1358del
ENST00000616242.5:c.*480del	ENSP00000482149.2:n.*480del
ENST00000683378.1:n.586del
ENST00000336642.9:c.394del	ENSP00000338009.5:p.Ala132ArgfsTer?
ENST00000345378.7:c.1363del	ENSP00000223366.2:p.Ala455ArgfsTer?
ENST00000403799.8:c.1360del MANE Select	ENSP00000384247.3:p.Ala454ArgfsTer?
ENST00000671824.1:c.1423del	ENSP00000500264.1:p.Ala475ArgfsTer?
ENST00000672743.1:n.372del
ENST00000673284.1:c.1360del	ENSP00000499852.1:p.Ala454ArgfsTer10
ENST00000336642.8:c.412del	ENSP00000338009.4:p.Ala138ArgfsTer?
ENST00000345378.6:c.1363del	ENSP00000223366.2:p.Ala455ArgfsTer?
ENST00000395796.7:c.1357del	ENSP00000379142.3:p.Ala453ArgfsTer?
ENST00000403799.7:c.1360del	ENSP00000384247.3:p.Ala454ArgfsTer?
ENST00000437084.1:c.1309del	ENSP00000402840.1:p.Ala437ArgfsTer?
ENST00000459642.1:n.740del
ENST00000616242.4:c.1357del	ENSP00000482149.1:p.Ala453ArgfsTer?
NM_000162.3:c.1360del	NP_000153.1:p.Ala454ArgfsTer?
NM_033507.1:c.1363del	NP_277042.1:p.Ala455ArgfsTer?
NM_033508.1:c.1357del	NP_277043.1:p.Ala453ArgfsTer?
NM_000162.4:c.1360del	NP_000153.1:p.Ala454ArgfsTer?
NM_001354800.1:c.1360del	NP_001341729.1:p.Ala454ArgfsTer10
NM_001354801.1:c.349del	NP_001341730.1:p.Ala117ArgfsTer?
NM_001354802.1:c.220del	NP_001341731.1:p.Ala74ArgfsTer10
NM_001354803.1:c.394del	NP_001341732.1:p.Ala132ArgfsTer?
NM_033507.2:c.1363del	NP_277042.1:p.Ala455ArgfsTer?
NM_033508.2:c.1357del	NP_277043.1:p.Ala453ArgfsTer?
XM_024446707.1:c.220del	XP_024302475.1:p.Ala74ArgfsTer?
NM_000162.5:c.1360del MANE Select	NP_000153.1:p.Ala454ArgfsTer?
NM_033507.3:c.1363del	NP_277042.1:p.Ala455ArgfsTer?
NM_033508.3:c.1357del	NP_277043.1:p.Ala453ArgfsTer?
NM_001354803.2:c.394del	NP_001341732.1:p.Ala132ArgfsTer?