Canonical Allele Identifier: CA213698
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36165
dbSNP Id: rs193922253

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146478_44146479insTT , CM000669.2:g.44146478_44146479insTT GRCh38
NC_000007.13:g.44186077_44186078insTT , CM000669.1:g.44186077_44186078insTT GRCh37
NC_000007.12:g.44152602_44152603insTT NCBI36
NG_008847.1:g.47945_47946insAA
NG_008847.2:g.56692_56693insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1001_*1002insAA ENSP00000379142.4:n.*1001_*1002insAA
ENST00000616242.5:c.*123_*124insAA ENSP00000482149.2:n.*123_*124insAA
ENST00000683378.1:n.229_230insAA
ENST00000345378.7:c.1006_1007insAA ENSP00000223366.2:p.Val336GlufsTer19
ENST00000403799.8:c.1003_1004insAA MANE Select ENSP00000384247.3:p.Val335GlufsTer19
ENST00000671824.1:c.1066_1067insAA ENSP00000500264.1:p.Val356GlufsTer19
ENST00000673284.1:c.1003_1004insAA ENSP00000499852.1:p.Val335GlufsTer19
ENST00000345378.6:c.1006_1007insAA ENSP00000223366.2:p.Val336GlufsTer19
ENST00000395796.7:c.1000_1001insAA ENSP00000379142.3:p.Val334GlufsTer19
ENST00000403799.7:c.1003_1004insAA ENSP00000384247.3:p.Val335GlufsTer19
ENST00000437084.1:c.952_953insAA ENSP00000402840.1:p.Val318GlufsTer19
ENST00000473353.1:n.301_302insAA
ENST00000616242.4:c.1000_1001insAA ENSP00000482149.1:p.Val334GlufsTer19
NM_000162.3:c.1003_1004insAA NP_000153.1:p.Val335GlufsTer19
NM_033507.1:c.1006_1007insAA NP_277042.1:p.Val336GlufsTer19
NM_033508.1:c.1000_1001insAA NP_277043.1:p.Val334GlufsTer19
NM_000162.4:c.1003_1004insAA NP_000153.1:p.Val335GlufsTer19
NM_001354800.1:c.1003_1004insAA NP_001341729.1:p.Val335GlufsTer19
NM_001354801.1:c.8+140_8+141insAA NP_001341730.1:n.8+140_8+141insAA
NM_033507.2:c.1006_1007insAA NP_277042.1:p.Val336GlufsTer19
NM_033508.2:c.1000_1001insAA NP_277043.1:p.Val334GlufsTer19
NM_000162.5:c.1003_1004insAA MANE Select NP_000153.1:p.Val335GlufsTer19
NM_033507.3:c.1006_1007insAA NP_277042.1:p.Val336GlufsTer19
NM_033508.3:c.1000_1001insAA NP_277043.1:p.Val334GlufsTer19