Canonical Allele Identifier: CA2573051059

Gene: GCK

Linked Data

• ClinVar Variation Id: 1803248
• ClinVar RCV Id: RCV002466918

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146543del , CM000669.2:g.44146543del	GRCh38
NC_000007.13:g.44186142del , CM000669.1:g.44186142del	GRCh37
NC_000007.12:g.44152667del	NCBI36
NG_008847.1:g.47882del
NG_008847.2:g.56629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*938del	ENSP00000379142.4:n.*938del
ENST00000616242.5:c.*60del	ENSP00000482149.2:n.*60del
ENST00000683378.1:n.166del
ENST00000345378.7:c.943del	ENSP00000223366.2:p.Leu315CysfsTer?
ENST00000403799.8:c.940del MANE Select	ENSP00000384247.3:p.Leu314CysfsTer?
ENST00000671824.1:c.1003del	ENSP00000500264.1:p.Leu335CysfsTer?
ENST00000673284.1:c.940del	ENSP00000499852.1:p.Leu314CysfsTer?
ENST00000345378.6:c.943del	ENSP00000223366.2:p.Leu315CysfsTer?
ENST00000395796.7:c.937del	ENSP00000379142.3:p.Leu313CysfsTer?
ENST00000403799.7:c.940del	ENSP00000384247.3:p.Leu314CysfsTer?
ENST00000437084.1:c.889del	ENSP00000402840.1:p.Leu297CysfsTer?
ENST00000473353.1:n.238del
ENST00000616242.4:c.937del	ENSP00000482149.1:p.Leu313CysfsTer?
NM_000162.3:c.940del	NP_000153.1:p.Leu314CysfsTer?
NM_033507.1:c.943del	NP_277042.1:p.Leu315CysfsTer?
NM_033508.1:c.937del	NP_277043.1:p.Leu313CysfsTer?
NM_000162.4:c.940del	NP_000153.1:p.Leu314CysfsTer?
NM_001354800.1:c.940del	NP_001341729.1:p.Leu314CysfsTer?
NM_001354801.1:c.8+77del	NP_001341730.1:n.8+77del
NM_033507.2:c.943del	NP_277042.1:p.Leu315CysfsTer?
NM_033508.2:c.937del	NP_277043.1:p.Leu313CysfsTer?
NM_000162.5:c.940del MANE Select	NP_000153.1:p.Leu314CysfsTer?
NM_033507.3:c.943del	NP_277042.1:p.Leu315CysfsTer?
NM_033508.3:c.937del	NP_277043.1:p.Leu313CysfsTer?