Canonical Allele Identifier: CA645372838

Gene: GCK

Linked Data

• ClinVar Variation Id: 435308
• ClinVar RCV Id: RCV000501175 ; RCV002463692
• dbSNP Id: rs1554335391
• MyVariant Identifiers: chr7:g.44189357_44189360del (hg19) ; chr7:g.44149758_44149761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149760_44149763del , CM000669.2:g.44149760_44149763del	GRCh38
NC_000007.13:g.44189359_44189362del , CM000669.1:g.44189359_44189362del	GRCh37
NC_000007.12:g.44155884_44155887del	NCBI36
NG_008847.1:g.44663_44666del
NG_008847.2:g.53410_53413del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*676_*677+2del
ENST00000616242.5:c.678_679+2del
ENST00000682635.1:n.1164_1167del
ENST00000345378.7:c.681_682+2del
ENST00000403799.8:c.678_679+2del
ENST00000671824.1:c.678_679+2del
ENST00000673284.1:c.678_679+2del
ENST00000345378.6:c.681_682+2del
ENST00000395796.7:c.675_676+2del
ENST00000403799.7:c.678_679+2del
ENST00000437084.1:c.627_628+2del
ENST00000616242.4:c.675_676+2del
NM_000162.3:c.678_679+2del
NM_033507.1:c.681_682+2del
NM_033508.1:c.675_676+2del
XR_927223.1:n.275_278del
NM_000162.4:c.678_679+2del
NM_001354800.1:c.678_679+2del
NM_033507.2:c.681_682+2del
NM_033508.2:c.675_676+2del
XR_927223.2:n.275_278del
NM_000162.5:c.678_679+2del
NM_033507.3:c.681_682+2del
NM_033508.3:c.675_676+2del