Canonical Allele Identifier: CA915458619
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs1562715006
gnomAD v2: 7-44187121-GA-G
gnomAD v3: 7-44147522-GA-G
gnomAD v4: 7-44147522-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147523del , CM000669.2:g.44147523del GRCh38
NC_000007.13:g.44187122del , CM000669.1:g.44187122del GRCh37
NC_000007.12:g.44153647del NCBI36
NG_008847.1:g.46901del
NG_008847.2:g.55648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*861+127del ENSP00000379142.4:n.*861+127del
ENST00000616242.5:c.853+137del ENSP00000482149.2:n.853+137del
ENST00000345378.7:c.866+127del ENSP00000223366.2:n.866+127del
ENST00000403799.8:c.863+127del MANE Select ENSP00000384247.3:n.863+127del
ENST00000671824.1:c.854-110del ENSP00000500264.1:n.854-110del
ENST00000673284.1:c.863+127del ENSP00000499852.1:n.863+127del
ENST00000345378.6:c.866+127del ENSP00000223366.2:n.866+127del
ENST00000395796.7:c.860+127del ENSP00000379142.3:n.860+127del
ENST00000403799.7:c.863+127del ENSP00000384247.3:n.863+127del
ENST00000437084.1:c.812+127del ENSP00000402840.1:n.812+127del
ENST00000616242.4:c.860+127del ENSP00000482149.1:n.860+127del
NM_000162.3:c.863+127del NP_000153.1:n.863+127del
NM_033507.1:c.866+127del NP_277042.1:n.866+127del
NM_033508.1:c.860+127del NP_277043.1:n.860+127del
NM_000162.4:c.863+127del NP_000153.1:n.863+127del
NM_001354800.1:c.863+127del NP_001341729.1:n.863+127del
NM_033507.2:c.866+127del NP_277042.1:n.866+127del
NM_033508.2:c.860+127del NP_277043.1:n.860+127del
NM_000162.5:c.863+127del MANE Select NP_000153.1:n.863+127del
NM_033507.3:c.866+127del NP_277042.1:n.866+127del
NM_033508.3:c.860+127del NP_277043.1:n.860+127del
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