Canonical Allele Identifier: CA891843077
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 585907
dbSNP Id: rs1562713041

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145697del , CM000669.2:g.44145697del GRCh38
NC_000007.13:g.44185296del , CM000669.1:g.44185296del GRCh37
NC_000007.12:g.44151821del NCBI36
NG_008847.1:g.48728del
NG_008847.2:g.57475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1052del ENSP00000379142.4:n.*1052del
ENST00000616242.5:c.*174del ENSP00000482149.2:n.*174del
ENST00000683378.1:n.280del
ENST00000336642.9:c.88del ENSP00000338009.5:p.Leu30Ter
ENST00000345378.7:c.1057del ENSP00000223366.2:p.Leu353Ter
ENST00000403799.8:c.1054del MANE Select ENSP00000384247.3:p.Leu352Ter
ENST00000671824.1:c.1117del ENSP00000500264.1:p.Leu373Ter
ENST00000672743.1:n.66del
ENST00000673284.1:c.1054del ENSP00000499852.1:p.Leu352Ter
ENST00000336642.8:c.106del ENSP00000338009.4:p.Leu36Ter
ENST00000345378.6:c.1057del ENSP00000223366.2:p.Leu353Ter
ENST00000395796.7:c.1051del ENSP00000379142.3:p.Leu351Ter
ENST00000403799.7:c.1054del ENSP00000384247.3:p.Leu352Ter
ENST00000437084.1:c.1003del ENSP00000402840.1:p.Leu335Ter
ENST00000459642.1:n.434del
ENST00000473353.1:n.352del
ENST00000616242.4:c.1051del ENSP00000482149.1:p.Leu351Ter
NM_000162.3:c.1054del NP_000153.1:p.Leu352Ter
NM_033507.1:c.1057del NP_277042.1:p.Leu353Ter
NM_033508.1:c.1051del NP_277043.1:p.Leu351Ter
NM_000162.4:c.1054del NP_000153.1:p.Leu352Ter
NM_001354800.1:c.1054del NP_001341729.1:p.Leu352Ter
NM_001354801.1:c.43del NP_001341730.1:p.Leu15Ter
NM_001354802.1:c.-87del NP_001341731.1:n.-87del
NM_001354803.1:c.88del NP_001341732.1:p.Leu30Ter
NM_033507.2:c.1057del NP_277042.1:p.Leu353Ter
NM_033508.2:c.1051del NP_277043.1:p.Leu351Ter
XM_024446707.1:c.-87del XP_024302475.1:n.-87del
NM_000162.5:c.1054del MANE Select NP_000153.1:p.Leu352Ter
NM_033507.3:c.1057del NP_277042.1:p.Leu353Ter
NM_033508.3:c.1051del NP_277043.1:p.Leu351Ter
NM_001354803.2:c.88del NP_001341732.1:p.Leu30Ter