Canonical Allele Identifier: CA2682584787

Gene: GCK

Linked Data

• gnomAD v4: 7-44146257-TCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146258_44146327del , CM000669.2:g.44146258_44146327del	GRCh38
NC_000007.13:g.44185857_44185926del , CM000669.1:g.44185857_44185926del	GRCh37
NC_000007.12:g.44152382_44152451del	NCBI36
NG_008847.1:g.48097_48166del
NG_008847.2:g.56844_56913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1017+136_*1017+205del	ENSP00000379142.4:n.*1017+136_*1017+205del
ENST00000616242.5:c.*139+136_*139+205del	ENSP00000482149.2:n.*139+136_*139+205del
ENST00000683378.1:n.245+136_245+205del
ENST00000345378.7:c.1022+136_1022+205del	ENSP00000223366.2:n.1022+136_1022+205del
ENST00000403799.8:c.1019+136_1019+205del MANE Select	ENSP00000384247.3:n.1019+136_1019+205del
ENST00000671824.1:c.1082+136_1082+205del	ENSP00000500264.1:n.1082+136_1082+205del
ENST00000673284.1:c.1019+136_1019+205del	ENSP00000499852.1:n.1019+136_1019+205del
ENST00000345378.6:c.1022+136_1022+205del	ENSP00000223366.2:n.1022+136_1022+205del
ENST00000395796.7:c.1016+136_1016+205del	ENSP00000379142.3:n.1016+136_1016+205del
ENST00000403799.7:c.1019+136_1019+205del	ENSP00000384247.3:n.1019+136_1019+205del
ENST00000437084.1:c.968+136_968+205del	ENSP00000402840.1:n.968+136_968+205del
ENST00000473353.1:n.317+136_317+205del
ENST00000616242.4:c.1016+136_1016+205del	ENSP00000482149.1:n.1016+136_1016+205del
NM_000162.3:c.1019+136_1019+205del	NP_000153.1:n.1019+136_1019+205del
NM_033507.1:c.1022+136_1022+205del	NP_277042.1:n.1022+136_1022+205del
NM_033508.1:c.1016+136_1016+205del	NP_277043.1:n.1016+136_1016+205del
NM_000162.4:c.1019+136_1019+205del	NP_000153.1:n.1019+136_1019+205del
NM_001354800.1:c.1019+136_1019+205del	NP_001341729.1:n.1019+136_1019+205del
NM_001354801.1:c.8+292_8+361del	NP_001341730.1:n.8+292_8+361del
NM_033507.2:c.1022+136_1022+205del	NP_277042.1:n.1022+136_1022+205del
NM_033508.2:c.1016+136_1016+205del	NP_277043.1:n.1016+136_1016+205del
NM_000162.5:c.1019+136_1019+205del MANE Select	NP_000153.1:n.1019+136_1019+205del
NM_033507.3:c.1022+136_1022+205del	NP_277042.1:n.1022+136_1022+205del
NM_033508.3:c.1016+136_1016+205del	NP_277043.1:n.1016+136_1016+205del