Canonical Allele Identifier: CA2682586181

Gene: GCK

Linked Data

• gnomAD v4: 7-44146526-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146530del , CM000669.2:g.44146530del	GRCh38
NC_000007.13:g.44186129del , CM000669.1:g.44186129del	GRCh37
NC_000007.12:g.44152654del	NCBI36
NG_008847.1:g.47897del
NG_008847.2:g.56644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*953del	ENSP00000379142.4:n.*953del
ENST00000616242.5:c.*75del	ENSP00000482149.2:n.*75del
ENST00000683378.1:n.181del
ENST00000345378.7:c.958del	ENSP00000223366.2:p.Glu320ArgfsTer?
ENST00000403799.8:c.955del MANE Select	ENSP00000384247.3:p.Glu319ArgfsTer?
ENST00000671824.1:c.1018del	ENSP00000500264.1:p.Glu340ArgfsTer?
ENST00000673284.1:c.955del	ENSP00000499852.1:p.Glu319ArgfsTer?
ENST00000345378.6:c.958del	ENSP00000223366.2:p.Glu320ArgfsTer?
ENST00000395796.7:c.952del	ENSP00000379142.3:p.Glu318ArgfsTer?
ENST00000403799.7:c.955del	ENSP00000384247.3:p.Glu319ArgfsTer?
ENST00000437084.1:c.904del	ENSP00000402840.1:p.Glu302ArgfsTer?
ENST00000473353.1:n.253del
ENST00000616242.4:c.952del	ENSP00000482149.1:p.Glu318ArgfsTer?
NM_000162.3:c.955del	NP_000153.1:p.Glu319ArgfsTer?
NM_033507.1:c.958del	NP_277042.1:p.Glu320ArgfsTer?
NM_033508.1:c.952del	NP_277043.1:p.Glu318ArgfsTer?
NM_000162.4:c.955del	NP_000153.1:p.Glu319ArgfsTer?
NM_001354800.1:c.955del	NP_001341729.1:p.Glu319ArgfsTer?
NM_001354801.1:c.8+92del	NP_001341730.1:n.8+92del
NM_033507.2:c.958del	NP_277042.1:p.Glu320ArgfsTer?
NM_033508.2:c.952del	NP_277043.1:p.Glu318ArgfsTer?
NM_000162.5:c.955del MANE Select	NP_000153.1:p.Glu319ArgfsTer?
NM_033507.3:c.958del	NP_277042.1:p.Glu320ArgfsTer?
NM_033508.3:c.952del	NP_277043.1:p.Glu318ArgfsTer?