Canonical Allele Identifier: CA1100773415

Gene: GCK

Linked Data

• gnomAD v3: 7-44146174-CGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCG-C
• gnomAD v4: 7-44146174-CGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146176_44146268del , CM000669.2:g.44146176_44146268del	GRCh38
NC_000007.13:g.44185775_44185867del , CM000669.1:g.44185775_44185867del	GRCh37
NC_000007.12:g.44152300_44152392del	NCBI36
NG_008847.1:g.48157_48249del
NG_008847.2:g.56904_56996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+196_*1017+288del	ENSP00000379142.4:n.*1017+196_*1017+288del
ENST00000616242.5:c.*139+196_*139+288del	ENSP00000482149.2:n.*139+196_*139+288del
ENST00000683378.1:n.245+196_245+288del
ENST00000345378.7:c.1022+196_1022+288del	ENSP00000223366.2:n.1022+196_1022+288del
ENST00000403799.8:c.1019+196_1019+288del MANE Select	ENSP00000384247.3:n.1019+196_1019+288del
ENST00000671824.1:c.1082+196_1082+288del	ENSP00000500264.1:n.1082+196_1082+288del
ENST00000673284.1:c.1019+196_1019+288del	ENSP00000499852.1:n.1019+196_1019+288del
ENST00000345378.6:c.1022+196_1022+288del	ENSP00000223366.2:n.1022+196_1022+288del
ENST00000395796.7:c.1016+196_1016+288del	ENSP00000379142.3:n.1016+196_1016+288del
ENST00000403799.7:c.1019+196_1019+288del	ENSP00000384247.3:n.1019+196_1019+288del
ENST00000437084.1:c.968+196_968+288del	ENSP00000402840.1:n.968+196_968+288del
ENST00000473353.1:n.317+196_317+288del
ENST00000616242.4:c.1016+196_1016+288del	ENSP00000482149.1:n.1016+196_1016+288del
NM_000162.3:c.1019+196_1019+288del	NP_000153.1:n.1019+196_1019+288del
NM_033507.1:c.1022+196_1022+288del	NP_277042.1:n.1022+196_1022+288del
NM_033508.1:c.1016+196_1016+288del	NP_277043.1:n.1016+196_1016+288del
NM_000162.4:c.1019+196_1019+288del	NP_000153.1:n.1019+196_1019+288del
NM_001354800.1:c.1019+196_1019+288del	NP_001341729.1:n.1019+196_1019+288del
NM_001354801.1:c.8+352_9-445del	NP_001341730.1:n.8+352_9-445del
NM_033507.2:c.1022+196_1022+288del	NP_277042.1:n.1022+196_1022+288del
NM_033508.2:c.1016+196_1016+288del	NP_277043.1:n.1016+196_1016+288del
NM_000162.5:c.1019+196_1019+288del MANE Select	NP_000153.1:n.1019+196_1019+288del
NM_033507.3:c.1022+196_1022+288del	NP_277042.1:n.1022+196_1022+288del
NM_033508.3:c.1016+196_1016+288del	NP_277043.1:n.1016+196_1016+288del