Canonical Allele Identifier: CA1100772491
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096269983
gnomAD v3: 7-44144941-GC-G
gnomAD v4: 7-44144941-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144944del , CM000669.2:g.44144944del GRCh38
NC_000007.13:g.44184543del , CM000669.1:g.44184543del GRCh37
NC_000007.12:g.44151068del NCBI36
NG_008847.1:g.49482del
NG_008847.2:g.58229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1590del ENSP00000379142.4:n.*1590del
ENST00000616242.5:c.*712del ENSP00000482149.2:n.*712del
ENST00000683378.1:n.818del
ENST00000336642.9:c.*194del ENSP00000338009.5:n.*194del
ENST00000345378.7:c.*194del ENSP00000223366.2:n.*194del
ENST00000403799.8:c.*194del MANE Select ENSP00000384247.3:n.*194del
ENST00000671824.1:c.*194del ENSP00000500264.1:n.*194del
ENST00000672743.1:n.381+223del
ENST00000673284.1:c.1369+223del ENSP00000499852.1:n.1369+223del
ENST00000336642.8:c.644del ENSP00000338009.4:n.644del
ENST00000345378.6:c.*194del ENSP00000223366.2:n.*194del
ENST00000395796.7:c.*194del ENSP00000379142.3:n.*194del
ENST00000403799.7:c.*194del ENSP00000384247.3:n.*194del
ENST00000459642.1:n.972del
ENST00000616242.4:c.1589del ENSP00000482149.1:n.1589del
NM_000162.3:c.*194del NP_000153.1:n.*194del
NM_033507.1:c.*194del NP_277042.1:n.*194del
NM_033508.1:c.*194del NP_277043.1:n.*194del
NM_000162.4:c.*194del NP_000153.1:n.*194del
NM_001354800.1:c.1369+223del NP_001341729.1:n.1369+223del
NM_001354801.1:c.*194del NP_001341730.1:n.*194del
NM_001354802.1:c.229+223del NP_001341731.1:n.229+223del
NM_001354803.1:c.*194del NP_001341732.1:n.*194del
NM_033507.2:c.*194del NP_277042.1:n.*194del
NM_033508.2:c.*194del NP_277043.1:n.*194del
XM_024446707.1:c.*194del XP_024302475.1:n.*194del
NM_000162.5:c.*194del MANE Select NP_000153.1:n.*194del
NM_033507.3:c.*194del NP_277042.1:n.*194del
NM_033508.3:c.*194del NP_277043.1:n.*194del
NM_001354803.2:c.*194del NP_001341732.1:n.*194del
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