Canonical Allele Identifier: CA2682584983

Gene: GCK

Linked Data

• gnomAD v4: 7-44146281-CCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146284_44146320del , CM000669.2:g.44146284_44146320del	GRCh38
NC_000007.13:g.44185883_44185919del , CM000669.1:g.44185883_44185919del	GRCh37
NC_000007.12:g.44152408_44152444del	NCBI36
NG_008847.1:g.48106_48142del
NG_008847.2:g.56853_56889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+145_*1017+181del	ENSP00000379142.4:n.*1017+145_*1017+181del
ENST00000616242.5:c.*139+145_*139+181del	ENSP00000482149.2:n.*139+145_*139+181del
ENST00000683378.1:n.245+145_245+181del
ENST00000345378.7:c.1022+145_1022+181del	ENSP00000223366.2:n.1022+145_1022+181del
ENST00000403799.8:c.1019+145_1019+181del MANE Select	ENSP00000384247.3:n.1019+145_1019+181del
ENST00000671824.1:c.1082+145_1082+181del	ENSP00000500264.1:n.1082+145_1082+181del
ENST00000673284.1:c.1019+145_1019+181del	ENSP00000499852.1:n.1019+145_1019+181del
ENST00000345378.6:c.1022+145_1022+181del	ENSP00000223366.2:n.1022+145_1022+181del
ENST00000395796.7:c.1016+145_1016+181del	ENSP00000379142.3:n.1016+145_1016+181del
ENST00000403799.7:c.1019+145_1019+181del	ENSP00000384247.3:n.1019+145_1019+181del
ENST00000437084.1:c.968+145_968+181del	ENSP00000402840.1:n.968+145_968+181del
ENST00000473353.1:n.317+145_317+181del
ENST00000616242.4:c.1016+145_1016+181del	ENSP00000482149.1:n.1016+145_1016+181del
NM_000162.3:c.1019+145_1019+181del	NP_000153.1:n.1019+145_1019+181del
NM_033507.1:c.1022+145_1022+181del	NP_277042.1:n.1022+145_1022+181del
NM_033508.1:c.1016+145_1016+181del	NP_277043.1:n.1016+145_1016+181del
NM_000162.4:c.1019+145_1019+181del	NP_000153.1:n.1019+145_1019+181del
NM_001354800.1:c.1019+145_1019+181del	NP_001341729.1:n.1019+145_1019+181del
NM_001354801.1:c.8+301_8+337del	NP_001341730.1:n.8+301_8+337del
NM_033507.2:c.1022+145_1022+181del	NP_277042.1:n.1022+145_1022+181del
NM_033508.2:c.1016+145_1016+181del	NP_277043.1:n.1016+145_1016+181del
NM_000162.5:c.1019+145_1019+181del MANE Select	NP_000153.1:n.1019+145_1019+181del
NM_033507.3:c.1022+145_1022+181del	NP_277042.1:n.1022+145_1022+181del
NM_033508.3:c.1016+145_1016+181del	NP_277043.1:n.1016+145_1016+181del