Canonical Allele Identifier: CA2682579361
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44144929-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144934del , CM000669.2:g.44144934del GRCh38
NC_000007.13:g.44184533del , CM000669.1:g.44184533del GRCh37
NC_000007.12:g.44151058del NCBI36
NG_008847.1:g.49494del
NG_008847.2:g.58241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1602del ENSP00000379142.4:n.*1602del
ENST00000616242.5:c.*724del ENSP00000482149.2:n.*724del
ENST00000683378.1:n.830del
ENST00000336642.9:c.*206del ENSP00000338009.5:n.*206del
ENST00000345378.7:c.*206del ENSP00000223366.2:n.*206del
ENST00000403799.8:c.*206del MANE Select ENSP00000384247.3:n.*206del
ENST00000671824.1:c.*206del ENSP00000500264.1:n.*206del
ENST00000672743.1:n.381+235del
ENST00000673284.1:c.1369+235del ENSP00000499852.1:n.1369+235del
ENST00000336642.8:c.656del ENSP00000338009.4:n.656del
ENST00000345378.6:c.*206del ENSP00000223366.2:n.*206del
ENST00000395796.7:c.*206del ENSP00000379142.3:n.*206del
ENST00000403799.7:c.*206del ENSP00000384247.3:n.*206del
ENST00000459642.1:n.984del
ENST00000616242.4:c.1601del ENSP00000482149.1:n.1601del
NM_000162.3:c.*206del NP_000153.1:n.*206del
NM_033507.1:c.*206del NP_277042.1:n.*206del
NM_033508.1:c.*206del NP_277043.1:n.*206del
NM_000162.4:c.*206del NP_000153.1:n.*206del
NM_001354800.1:c.1369+235del NP_001341729.1:n.1369+235del
NM_001354801.1:c.*206del NP_001341730.1:n.*206del
NM_001354802.1:c.229+235del NP_001341731.1:n.229+235del
NM_001354803.1:c.*206del NP_001341732.1:n.*206del
NM_033507.2:c.*206del NP_277042.1:n.*206del
NM_033508.2:c.*206del NP_277043.1:n.*206del
XM_024446707.1:c.*206del XP_024302475.1:n.*206del
NM_000162.5:c.*206del MANE Select NP_000153.1:n.*206del
NM_033507.3:c.*206del NP_277042.1:n.*206del
NM_033508.3:c.*206del NP_277043.1:n.*206del
NM_001354803.2:c.*206del NP_001341732.1:n.*206del
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