Canonical Allele Identifier: CA1100773558

Gene: GCK

Linked Data

• gnomAD v3: 7-44146242-TGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGG-T
• gnomAD v4: 7-44146242-TGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146252_44146283del , CM000669.2:g.44146252_44146283del	GRCh38
NC_000007.13:g.44185851_44185882del , CM000669.1:g.44185851_44185882del	GRCh37
NC_000007.12:g.44152376_44152407del	NCBI36
NG_008847.1:g.48150_48181del
NG_008847.2:g.56897_56928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+189_*1017+220del	ENSP00000379142.4:n.*1017+189_*1017+220del
ENST00000616242.5:c.*139+189_*139+220del	ENSP00000482149.2:n.*139+189_*139+220del
ENST00000683378.1:n.245+189_245+220del
ENST00000345378.7:c.1022+189_1022+220del	ENSP00000223366.2:n.1022+189_1022+220del
ENST00000403799.8:c.1019+189_1019+220del MANE Select	ENSP00000384247.3:n.1019+189_1019+220del
ENST00000671824.1:c.1082+189_1082+220del	ENSP00000500264.1:n.1082+189_1082+220del
ENST00000673284.1:c.1019+189_1019+220del	ENSP00000499852.1:n.1019+189_1019+220del
ENST00000345378.6:c.1022+189_1022+220del	ENSP00000223366.2:n.1022+189_1022+220del
ENST00000395796.7:c.1016+189_1016+220del	ENSP00000379142.3:n.1016+189_1016+220del
ENST00000403799.7:c.1019+189_1019+220del	ENSP00000384247.3:n.1019+189_1019+220del
ENST00000437084.1:c.968+189_968+220del	ENSP00000402840.1:n.968+189_968+220del
ENST00000473353.1:n.317+189_317+220del
ENST00000616242.4:c.1016+189_1016+220del	ENSP00000482149.1:n.1016+189_1016+220del
NM_000162.3:c.1019+189_1019+220del	NP_000153.1:n.1019+189_1019+220del
NM_033507.1:c.1022+189_1022+220del	NP_277042.1:n.1022+189_1022+220del
NM_033508.1:c.1016+189_1016+220del	NP_277043.1:n.1016+189_1016+220del
NM_000162.4:c.1019+189_1019+220del	NP_000153.1:n.1019+189_1019+220del
NM_001354800.1:c.1019+189_1019+220del	NP_001341729.1:n.1019+189_1019+220del
NM_001354801.1:c.8+345_8+376del	NP_001341730.1:n.8+345_8+376del
NM_033507.2:c.1022+189_1022+220del	NP_277042.1:n.1022+189_1022+220del
NM_033508.2:c.1016+189_1016+220del	NP_277043.1:n.1016+189_1016+220del
NM_000162.5:c.1019+189_1019+220del MANE Select	NP_000153.1:n.1019+189_1019+220del
NM_033507.3:c.1022+189_1022+220del	NP_277042.1:n.1022+189_1022+220del
NM_033508.3:c.1016+189_1016+220del	NP_277043.1:n.1016+189_1016+220del