Canonical Allele Identifier: CA1703634895

Gene: GCK

Linked Data

• ClinVar Variation Id: 992217
• ClinVar RCV Id: RCV001280588 ; RCV002463801 ; RCV003481051
• dbSNP Id: rs2096275478
• ERepo: CA1703634895/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147703_44147705del , CM000669.2:g.44147703_44147705del	GRCh38
NC_000007.13:g.44187302_44187304del , CM000669.1:g.44187302_44187304del	GRCh37
NC_000007.12:g.44153827_44153829del	NCBI36
NG_008847.1:g.46722_46724del
NG_008847.2:g.55469_55471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*809_*811del	ENSP00000379142.4:n.*809_*811del
ENST00000616242.5:c.811_813del	ENSP00000482149.2:p.Leu271del
ENST00000345378.7:c.814_816del	ENSP00000223366.2:p.Leu272del
ENST00000403799.8:c.811_813del MANE Select	ENSP00000384247.3:p.Leu271del
ENST00000671824.1:c.811_813del	ENSP00000500264.1:p.Leu271del
ENST00000673284.1:c.811_813del	ENSP00000499852.1:p.Leu271del
ENST00000345378.6:c.814_816del	ENSP00000223366.2:p.Leu272del
ENST00000395796.7:c.808_810del	ENSP00000379142.3:p.Leu270del
ENST00000403799.7:c.811_813del	ENSP00000384247.3:p.Leu271del
ENST00000437084.1:c.760_762del	ENSP00000402840.1:p.Leu254del
ENST00000616242.4:c.808_810del	ENSP00000482149.1:p.Leu270del
NM_000162.3:c.811_813del	NP_000153.1:p.Leu271del
NM_033507.1:c.814_816del	NP_277042.1:p.Leu272del
NM_033508.1:c.808_810del	NP_277043.1:p.Leu270del
XR_927223.1:n.37_39del
NM_000162.4:c.811_813del	NP_000153.1:p.Leu271del
NM_001354800.1:c.811_813del	NP_001341729.1:p.Leu271del
NM_033507.2:c.814_816del	NP_277042.1:p.Leu272del
NM_033508.2:c.808_810del	NP_277043.1:p.Leu270del
XR_927223.2:n.37_39del
NM_000162.5:c.811_813del MANE Select	NP_000153.1:p.Leu271del
NM_033507.3:c.814_816del	NP_277042.1:p.Leu272del
NM_033508.3:c.808_810del	NP_277043.1:p.Leu270del