Canonical Allele Identifier: CA2682584973

Gene: GCK

Linked Data

• gnomAD v4: 7-44146280-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146282_44146283dup , CM000669.2:g.44146282_44146283dup	GRCh38
NC_000007.13:g.44185881_44185882dup , CM000669.1:g.44185881_44185882dup	GRCh37
NC_000007.12:g.44152406_44152407dup	NCBI36
NG_008847.1:g.48142_48143dup
NG_008847.2:g.56889_56890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+181_*1017+182dup	ENSP00000379142.4:n.*1017+181_*1017+182dup
ENST00000616242.5:c.*139+181_*139+182dup	ENSP00000482149.2:n.*139+181_*139+182dup
ENST00000683378.1:n.245+181_245+182dup
ENST00000345378.7:c.1022+181_1022+182dup	ENSP00000223366.2:n.1022+181_1022+182dup
ENST00000403799.8:c.1019+181_1019+182dup MANE Select	ENSP00000384247.3:n.1019+181_1019+182dup
ENST00000671824.1:c.1082+181_1082+182dup	ENSP00000500264.1:n.1082+181_1082+182dup
ENST00000673284.1:c.1019+181_1019+182dup	ENSP00000499852.1:n.1019+181_1019+182dup
ENST00000345378.6:c.1022+181_1022+182dup	ENSP00000223366.2:n.1022+181_1022+182dup
ENST00000395796.7:c.1016+181_1016+182dup	ENSP00000379142.3:n.1016+181_1016+182dup
ENST00000403799.7:c.1019+181_1019+182dup	ENSP00000384247.3:n.1019+181_1019+182dup
ENST00000437084.1:c.968+181_968+182dup	ENSP00000402840.1:n.968+181_968+182dup
ENST00000473353.1:n.317+181_317+182dup
ENST00000616242.4:c.1016+181_1016+182dup	ENSP00000482149.1:n.1016+181_1016+182dup
NM_000162.3:c.1019+181_1019+182dup	NP_000153.1:n.1019+181_1019+182dup
NM_033507.1:c.1022+181_1022+182dup	NP_277042.1:n.1022+181_1022+182dup
NM_033508.1:c.1016+181_1016+182dup	NP_277043.1:n.1016+181_1016+182dup
NM_000162.4:c.1019+181_1019+182dup	NP_000153.1:n.1019+181_1019+182dup
NM_001354800.1:c.1019+181_1019+182dup	NP_001341729.1:n.1019+181_1019+182dup
NM_001354801.1:c.8+337_8+338dup	NP_001341730.1:n.8+337_8+338dup
NM_033507.2:c.1022+181_1022+182dup	NP_277042.1:n.1022+181_1022+182dup
NM_033508.2:c.1016+181_1016+182dup	NP_277043.1:n.1016+181_1016+182dup
NM_000162.5:c.1019+181_1019+182dup MANE Select	NP_000153.1:n.1019+181_1019+182dup
NM_033507.3:c.1022+181_1022+182dup	NP_277042.1:n.1022+181_1022+182dup
NM_033508.3:c.1016+181_1016+182dup	NP_277043.1:n.1016+181_1016+182dup