Canonical Allele Identifier: CA2573052877

Gene: GCK

Linked Data

• ClinVar Variation Id: 1338497
• ClinVar RCV Id: RCV001817868
• dbSNP Id: rs2128821515

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149832_44149833insACGGTGT , CM000669.2:g.44149832_44149833insACGGTGT	GRCh38
NC_000007.13:g.44189431_44189432insACGGTGT , CM000669.1:g.44189431_44189432insACGGTGT	GRCh37
NC_000007.12:g.44155956_44155957insACGGTGT	NCBI36
NG_008847.1:g.44591_44592insACACCGT
NG_008847.2:g.53338_53339insACACCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*604_*605insACACCGT	ENSP00000379142.4:n.*604_*605insACACCGT
ENST00000616242.5:c.606_607insACACCGT	ENSP00000482149.2:p.Val203ThrfsTer5
ENST00000682635.1:n.1092_1093insACACCGT
ENST00000345378.7:c.609_610insACACCGT	ENSP00000223366.2:p.Val204ThrfsTer5
ENST00000403799.8:c.606_607insACACCGT MANE Select	ENSP00000384247.3:p.Val203ThrfsTer5
ENST00000671824.1:c.606_607insACACCGT	ENSP00000500264.1:p.Val203ThrfsTer5
ENST00000673284.1:c.606_607insACACCGT	ENSP00000499852.1:p.Val203ThrfsTer5
ENST00000345378.6:c.609_610insACACCGT	ENSP00000223366.2:p.Val204ThrfsTer5
ENST00000395796.7:c.603_604insACACCGT	ENSP00000379142.3:p.Val202ThrfsTer5
ENST00000403799.7:c.606_607insACACCGT	ENSP00000384247.3:p.Val203ThrfsTer5
ENST00000437084.1:c.555_556insACACCGT	ENSP00000402840.1:p.Val186ThrfsTer5
ENST00000616242.4:c.603_604insACACCGT	ENSP00000482149.1:p.Val202ThrfsTer5
NM_000162.3:c.606_607insACACCGT	NP_000153.1:p.Val203ThrfsTer5
NM_033507.1:c.609_610insACACCGT	NP_277042.1:p.Val204ThrfsTer5
NM_033508.1:c.603_604insACACCGT	NP_277043.1:p.Val202ThrfsTer5
NM_000162.4:c.606_607insACACCGT	NP_000153.1:p.Val203ThrfsTer5
NM_001354800.1:c.606_607insACACCGT	NP_001341729.1:p.Val203ThrfsTer5
NM_033507.2:c.609_610insACACCGT	NP_277042.1:p.Val204ThrfsTer5
NM_033508.2:c.603_604insACACCGT	NP_277043.1:p.Val202ThrfsTer5
NM_000162.5:c.606_607insACACCGT MANE Select	NP_000153.1:p.Val203ThrfsTer5
NM_033507.3:c.609_610insACACCGT	NP_277042.1:p.Val204ThrfsTer5
NM_033508.3:c.603_604insACACCGT	NP_277043.1:p.Val202ThrfsTer5