Canonical Allele Identifier: CA2682579676
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145009_44145050del , CM000669.2:g.44145009_44145050del GRCh38
NC_000007.13:g.44184608_44184649del , CM000669.1:g.44184608_44184649del GRCh37
NC_000007.12:g.44151133_44151174del NCBI36
NG_008847.1:g.49379_49420del
NG_008847.2:g.58126_58167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1487_*1528del ENSP00000379142.4:n.*1487_*1528del
ENST00000616242.5:c.*609_*650del ENSP00000482149.2:n.*609_*650del
ENST00000683378.1:n.715_756del
ENST00000336642.9:c.*91_*132del ENSP00000338009.5:n.*91_*132del
ENST00000345378.7:c.*91_*132del ENSP00000223366.2:n.*91_*132del
ENST00000403799.8:c.*91_*132del MANE Select ENSP00000384247.3:n.*91_*132del
ENST00000671824.1:c.*91_*132del ENSP00000500264.1:n.*91_*132del
ENST00000672743.1:n.381+120_381+161del
ENST00000673284.1:c.1369+120_1369+161del ENSP00000499852.1:n.1369+120_1369+161del
ENST00000336642.8:c.541_582del ENSP00000338009.4:n.541_582del
ENST00000345378.6:c.*91_*132del ENSP00000223366.2:n.*91_*132del
ENST00000395796.7:c.*91_*132del ENSP00000379142.3:n.*91_*132del
ENST00000403799.7:c.*91_*132del ENSP00000384247.3:n.*91_*132del
ENST00000459642.1:n.869_910del
ENST00000616242.4:c.1486_1527del ENSP00000482149.1:n.1486_1527del
NM_000162.3:c.*91_*132del NP_000153.1:n.*91_*132del
NM_033507.1:c.*91_*132del NP_277042.1:n.*91_*132del
NM_033508.1:c.*91_*132del NP_277043.1:n.*91_*132del
NM_000162.4:c.*91_*132del NP_000153.1:n.*91_*132del
NM_001354800.1:c.1369+120_1369+161del NP_001341729.1:n.1369+120_1369+161del
NM_001354801.1:c.*91_*132del NP_001341730.1:n.*91_*132del
NM_001354802.1:c.229+120_229+161del NP_001341731.1:n.229+120_229+161del
NM_001354803.1:c.*91_*132del NP_001341732.1:n.*91_*132del
NM_033507.2:c.*91_*132del NP_277042.1:n.*91_*132del
NM_033508.2:c.*91_*132del NP_277043.1:n.*91_*132del
XM_024446707.1:c.*91_*132del XP_024302475.1:n.*91_*132del
NM_000162.5:c.*91_*132del MANE Select NP_000153.1:n.*91_*132del
NM_033507.3:c.*91_*132del NP_277042.1:n.*91_*132del
NM_033508.3:c.*91_*132del NP_277043.1:n.*91_*132del
NM_001354803.2:c.*91_*132del NP_001341732.1:n.*91_*132del