Canonical Allele Identifier: CA213696
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36164
dbSNP Id: rs193922252

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146479_44146480delinsTT , CM000669.2:g.44146479_44146480delinsTT GRCh38
NC_000007.13:g.44186078_44186079delinsTT , CM000669.1:g.44186078_44186079delinsTT GRCh37
NC_000007.12:g.44152603_44152604delinsTT NCBI36
NG_008847.1:g.47944_47945delinsAA
NG_008847.2:g.56691_56692delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1000_*1001delinsAA ENSP00000379142.4:n.*1000_*1001delinsAA
ENST00000616242.5:c.*122_*123delinsAA ENSP00000482149.2:n.*122_*123delinsAA
ENST00000683378.1:n.228_229delinsAA
ENST00000345378.7:c.1005_1006delinsAA ENSP00000223366.2:p.Phe335_Val336delinsLe...
ENST00000403799.8:c.1002_1003delinsAA MANE Select ENSP00000384247.3:p.Phe334_Val335delinsLe...
ENST00000671824.1:c.1065_1066delinsAA ENSP00000500264.1:p.Phe355_Val356delinsLe...
ENST00000673284.1:c.1002_1003delinsAA ENSP00000499852.1:p.Phe334_Val335delinsLe...
ENST00000345378.6:c.1005_1006delinsAA ENSP00000223366.2:p.Phe335_Val336delinsLe...
ENST00000395796.7:c.999_1000delinsAA ENSP00000379142.3:p.Phe333_Val334delinsLe...
ENST00000403799.7:c.1002_1003delinsAA ENSP00000384247.3:p.Phe334_Val335delinsLe...
ENST00000437084.1:c.951_952delinsAA ENSP00000402840.1:p.Phe317_Val318delinsLe...
ENST00000473353.1:n.300_301delinsAA
ENST00000616242.4:c.999_1000delinsAA ENSP00000482149.1:p.Phe333_Val334delinsLe...
NM_000162.3:c.1002_1003delinsAA NP_000153.1:p.Phe334_Val335delinsLeuMet
NM_033507.1:c.1005_1006delinsAA NP_277042.1:p.Phe335_Val336delinsLeuMet
NM_033508.1:c.999_1000delinsAA NP_277043.1:p.Phe333_Val334delinsLeuMet
NM_000162.4:c.1002_1003delinsAA NP_000153.1:p.Phe334_Val335delinsLeuMet
NM_001354800.1:c.1002_1003delinsAA NP_001341729.1:p.Phe334_Val335delinsLeuMe...
NM_001354801.1:c.8+139_8+140delinsAA NP_001341730.1:n.8+139_8+140delinsAA
NM_033507.2:c.1005_1006delinsAA NP_277042.1:p.Phe335_Val336delinsLeuMet
NM_033508.2:c.999_1000delinsAA NP_277043.1:p.Phe333_Val334delinsLeuMet
NM_000162.5:c.1002_1003delinsAA MANE Select NP_000153.1:p.Phe334_Val335delinsLeuMet
NM_033507.3:c.1005_1006delinsAA NP_277042.1:p.Phe335_Val336delinsLeuMet
NM_033508.3:c.999_1000delinsAA NP_277043.1:p.Phe333_Val334delinsLeuMet