Canonical Allele Identifier: CA1100773490

Gene: GCK

Linked Data

• gnomAD v3: 7-44146192-TCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACG-T
• gnomAD v4: 7-44146192-TCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146196_44146327del , CM000669.2:g.44146196_44146327del	GRCh38
NC_000007.13:g.44185795_44185926del , CM000669.1:g.44185795_44185926del	GRCh37
NC_000007.12:g.44152320_44152451del	NCBI36
NG_008847.1:g.48100_48231del
NG_008847.2:g.56847_56978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1017+139_*1017+270del	ENSP00000379142.4:n.*1017+139_*1017+270del
ENST00000616242.5:c.*139+139_*139+270del	ENSP00000482149.2:n.*139+139_*139+270del
ENST00000683378.1:n.245+139_245+270del
ENST00000345378.7:c.1022+139_1022+270del	ENSP00000223366.2:n.1022+139_1022+270del
ENST00000403799.8:c.1019+139_1019+270del MANE Select	ENSP00000384247.3:n.1019+139_1019+270del
ENST00000671824.1:c.1082+139_1082+270del	ENSP00000500264.1:n.1082+139_1082+270del
ENST00000673284.1:c.1019+139_1019+270del	ENSP00000499852.1:n.1019+139_1019+270del
ENST00000345378.6:c.1022+139_1022+270del	ENSP00000223366.2:n.1022+139_1022+270del
ENST00000395796.7:c.1016+139_1016+270del	ENSP00000379142.3:n.1016+139_1016+270del
ENST00000403799.7:c.1019+139_1019+270del	ENSP00000384247.3:n.1019+139_1019+270del
ENST00000437084.1:c.968+139_968+270del	ENSP00000402840.1:n.968+139_968+270del
ENST00000473353.1:n.317+139_317+270del
ENST00000616242.4:c.1016+139_1016+270del	ENSP00000482149.1:n.1016+139_1016+270del
NM_000162.3:c.1019+139_1019+270del	NP_000153.1:n.1019+139_1019+270del
NM_033507.1:c.1022+139_1022+270del	NP_277042.1:n.1022+139_1022+270del
NM_033508.1:c.1016+139_1016+270del	NP_277043.1:n.1016+139_1016+270del
NM_000162.4:c.1019+139_1019+270del	NP_000153.1:n.1019+139_1019+270del
NM_001354800.1:c.1019+139_1019+270del	NP_001341729.1:n.1019+139_1019+270del
NM_001354801.1:c.8+295_8+426del	NP_001341730.1:n.8+295_8+426del
NM_033507.2:c.1022+139_1022+270del	NP_277042.1:n.1022+139_1022+270del
NM_033508.2:c.1016+139_1016+270del	NP_277043.1:n.1016+139_1016+270del
NM_000162.5:c.1019+139_1019+270del MANE Select	NP_000153.1:n.1019+139_1019+270del
NM_033507.3:c.1022+139_1022+270del	NP_277042.1:n.1022+139_1022+270del
NM_033508.3:c.1016+139_1016+270del	NP_277043.1:n.1016+139_1016+270del