Canonical Allele Identifier: CA1100772460
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096269936
gnomAD v3: 7-44144913-TTCCTGC-T
gnomAD v4: 7-44144913-TTCCTGC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144920_44144925del , CM000669.2:g.44144920_44144925del GRCh38
NC_000007.13:g.44184519_44184524del , CM000669.1:g.44184519_44184524del GRCh37
NC_000007.12:g.44151044_44151049del NCBI36
NG_008847.1:g.49505_49510del
NG_008847.2:g.58252_58257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1613_*1618del ENSP00000379142.4:n.*1613_*1618del
ENST00000616242.5:c.*735_*740del ENSP00000482149.2:n.*735_*740del
ENST00000683378.1:n.841_846del
ENST00000336642.9:c.*217_*222del ENSP00000338009.5:n.*217_*222del
ENST00000345378.7:c.*217_*222del ENSP00000223366.2:n.*217_*222del
ENST00000403799.8:c.*217_*222del MANE Select ENSP00000384247.3:n.*217_*222del
ENST00000671824.1:c.*217_*222del ENSP00000500264.1:n.*217_*222del
ENST00000672743.1:n.381+246_381+251del
ENST00000673284.1:c.1369+246_1369+251del ENSP00000499852.1:n.1369+246_1369+251del
ENST00000336642.8:c.667_672del ENSP00000338009.4:n.667_672del
ENST00000345378.6:c.*217_*222del ENSP00000223366.2:n.*217_*222del
ENST00000395796.7:c.*217_*222del ENSP00000379142.3:n.*217_*222del
ENST00000403799.7:c.*217_*222del ENSP00000384247.3:n.*217_*222del
ENST00000459642.1:n.995_1000del
ENST00000616242.4:c.1612_1617del ENSP00000482149.1:n.1612_1617del
NM_000162.3:c.*217_*222del NP_000153.1:n.*217_*222del
NM_033507.1:c.*217_*222del NP_277042.1:n.*217_*222del
NM_033508.1:c.*217_*222del NP_277043.1:n.*217_*222del
NM_000162.4:c.*217_*222del NP_000153.1:n.*217_*222del
NM_001354800.1:c.1369+246_1369+251del NP_001341729.1:n.1369+246_1369+251del
NM_001354801.1:c.*217_*222del NP_001341730.1:n.*217_*222del
NM_001354802.1:c.229+246_229+251del NP_001341731.1:n.229+246_229+251del
NM_001354803.1:c.*217_*222del NP_001341732.1:n.*217_*222del
NM_033507.2:c.*217_*222del NP_277042.1:n.*217_*222del
NM_033508.2:c.*217_*222del NP_277043.1:n.*217_*222del
XM_024446707.1:c.*217_*222del XP_024302475.1:n.*217_*222del
NM_000162.5:c.*217_*222del MANE Select NP_000153.1:n.*217_*222del
NM_033507.3:c.*217_*222del NP_277042.1:n.*217_*222del
NM_033508.3:c.*217_*222del NP_277043.1:n.*217_*222del
NM_001354803.2:c.*217_*222del NP_001341732.1:n.*217_*222del
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