Canonical Allele Identifier: CA213830

Gene: GCK

Linked Data

• ClinVar Variation Id: 36245
• ClinVar RCV Id: RCV000029908 ; RCV002463605
• dbSNP Id: rs193922320
• MyVariant Identifiers: chr7:g.44189358del (hg19) ; chr7:g.44149759del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149761del , CM000669.2:g.44149761del	GRCh38
NC_000007.13:g.44189360del , CM000669.1:g.44189360del	GRCh37
NC_000007.12:g.44155885del	NCBI36
NG_008847.1:g.44665del
NG_008847.2:g.53412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*677+1del
ENST00000616242.5:c.679+1del
ENST00000682635.1:n.1166del
ENST00000345378.7:c.682+1del
ENST00000403799.8:c.679+1del
ENST00000671824.1:c.679+1del
ENST00000673284.1:c.679+1del
ENST00000345378.6:c.682+1del
ENST00000395796.7:c.676+1del
ENST00000403799.7:c.679+1del
ENST00000437084.1:c.628+1del
ENST00000616242.4:n.676+1del
NM_000162.3:c.679+1del
NM_033507.1:c.682+1del
NM_033508.1:c.676+1del
XR_927223.1:n.276del
NM_000162.4:c.679+1del
NM_001354800.1:c.679+1del
NM_033507.2:c.682+1del
NM_033508.2:c.676+1del
XR_927223.2:n.276del
NM_000162.5:c.679+1del
NM_033507.3:c.682+1del
NM_033508.3:c.676+1del