Canonical Allele Identifier: CA2682579121
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44144877-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144879del , CM000669.2:g.44144879del GRCh38
NC_000007.13:g.44184478del , CM000669.1:g.44184478del GRCh37
NC_000007.12:g.44151003del NCBI36
NG_008847.1:g.49546del
NG_008847.2:g.58293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1654del ENSP00000379142.4:n.*1654del
ENST00000616242.5:c.*776del ENSP00000482149.2:n.*776del
ENST00000683378.1:n.882del
ENST00000336642.9:c.*258del ENSP00000338009.5:n.*258del
ENST00000345378.7:c.*258del ENSP00000223366.2:n.*258del
ENST00000403799.8:c.*258del MANE Select ENSP00000384247.3:n.*258del
ENST00000671824.1:c.*258del ENSP00000500264.1:n.*258del
ENST00000672743.1:n.381+287del
ENST00000673284.1:c.1369+287del ENSP00000499852.1:n.1369+287del
ENST00000336642.8:c.708del ENSP00000338009.4:n.708del
ENST00000345378.6:c.*258del ENSP00000223366.2:n.*258del
ENST00000395796.7:c.*258del ENSP00000379142.3:n.*258del
ENST00000403799.7:c.*258del ENSP00000384247.3:n.*258del
ENST00000459642.1:n.1036del
ENST00000616242.4:c.1653del ENSP00000482149.1:n.1653del
NM_000162.3:c.*258del NP_000153.1:n.*258del
NM_033507.1:c.*258del NP_277042.1:n.*258del
NM_033508.1:c.*258del NP_277043.1:n.*258del
NM_000162.4:c.*258del NP_000153.1:n.*258del
NM_001354800.1:c.1369+287del NP_001341729.1:n.1369+287del
NM_001354801.1:c.*258del NP_001341730.1:n.*258del
NM_001354802.1:c.229+287del NP_001341731.1:n.229+287del
NM_001354803.1:c.*258del NP_001341732.1:n.*258del
NM_033507.2:c.*258del NP_277042.1:n.*258del
NM_033508.2:c.*258del NP_277043.1:n.*258del
XM_024446707.1:c.*258del XP_024302475.1:n.*258del
NM_000162.5:c.*258del MANE Select NP_000153.1:n.*258del
NM_033507.3:c.*258del NP_277042.1:n.*258del
NM_033508.3:c.*258del NP_277043.1:n.*258del
NM_001354803.2:c.*258del NP_001341732.1:n.*258del
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