Canonical Allele Identifier: CA2682583720

Gene: GCK

Linked Data

• gnomAD v4: 7-44146137-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146141del , CM000669.2:g.44146141del	GRCh38
NC_000007.13:g.44185740del , CM000669.1:g.44185740del	GRCh37
NC_000007.12:g.44152265del	NCBI36
NG_008847.1:g.48286del
NG_008847.2:g.57033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+325del	ENSP00000379142.4:n.*1017+325del
ENST00000616242.5:c.*139+325del	ENSP00000482149.2:n.*139+325del
ENST00000683378.1:n.245+325del
ENST00000336642.9:c.-12del	ENSP00000338009.5:n.-12del
ENST00000345378.7:c.1022+325del	ENSP00000223366.2:n.1022+325del
ENST00000403799.8:c.1019+325del MANE Select	ENSP00000384247.3:n.1019+325del
ENST00000671824.1:c.1082+325del	ENSP00000500264.1:n.1082+325del
ENST00000673284.1:c.1019+325del	ENSP00000499852.1:n.1019+325del
ENST00000336642.8:c.7del	ENSP00000338009.4:p.Val3SerfsTer?
ENST00000345378.6:c.1022+325del	ENSP00000223366.2:n.1022+325del
ENST00000395796.7:c.1016+325del	ENSP00000379142.3:n.1016+325del
ENST00000403799.7:c.1019+325del	ENSP00000384247.3:n.1019+325del
ENST00000437084.1:c.968+325del	ENSP00000402840.1:n.968+325del
ENST00000473353.1:n.317+325del
ENST00000616242.4:c.1016+325del	ENSP00000482149.1:n.1016+325del
NM_000162.3:c.1019+325del	NP_000153.1:n.1019+325del
NM_033507.1:c.1022+325del	NP_277042.1:n.1022+325del
NM_033508.1:c.1016+325del	NP_277043.1:n.1016+325del
NM_000162.4:c.1019+325del	NP_000153.1:n.1019+325del
NM_001354800.1:c.1019+325del	NP_001341729.1:n.1019+325del
NM_001354801.1:c.9-408del	NP_001341730.1:n.9-408del
NM_001354802.1:c.-351del	NP_001341731.1:n.-351del
NM_001354803.1:c.-12del	NP_001341732.1:n.-12del
NM_033507.2:c.1022+325del	NP_277042.1:n.1022+325del
NM_033508.2:c.1016+325del	NP_277043.1:n.1016+325del
NM_000162.5:c.1019+325del MANE Select	NP_000153.1:n.1019+325del
NM_033507.3:c.1022+325del	NP_277042.1:n.1022+325del
NM_033508.3:c.1016+325del	NP_277043.1:n.1016+325del
NM_001354803.2:c.-12del	NP_001341732.1:n.-12del