Canonical Allele Identifier: CA915944920
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804847
ClinVar RCV Id: RCV000992052 RCV003106086 RCV002286425
dbSNP Id: rs1583601110
gnomAD v4: 7-44150939-CCCTCCACCCGGCCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150943_44150957del , CM000669.2:g.44150943_44150957del GRCh38
NC_000007.13:g.44190542_44190556del , CM000669.1:g.44190542_44190556del GRCh37
NC_000007.12:g.44157067_44157081del NCBI36
NG_008847.1:g.43470_43484del
NG_008847.2:g.52217_52231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*481+2_*481+16del
ENST00000616242.5:c.483+2_483+16del
ENST00000682635.1:n.969+2_969+16del
ENST00000345378.7:c.486+2_486+16del
ENST00000403799.8:c.483+2_483+16del
ENST00000671824.1:c.483+2_483+16del
ENST00000673284.1:c.483+2_483+16del
ENST00000345378.6:c.486+2_486+16del
ENST00000395796.7:c.480+2_480+16del
ENST00000403799.7:c.483+2_483+16del
ENST00000437084.1:c.432+2_432+16del
ENST00000616242.4:c.480+2_480+16del
NM_000162.3:c.483+2_483+16del
NM_033507.1:c.486+2_486+16del
NM_033508.1:c.480+2_480+16del
NM_000162.4:c.483+2_483+16del
NM_001354800.1:c.483+2_483+16del
NM_033507.2:c.486+2_486+16del
NM_033508.2:c.480+2_480+16del
NM_000162.5:c.483+2_483+16del
NM_033507.3:c.486+2_486+16del
NM_033508.3:c.480+2_480+16del
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