Canonical Allele Identifier: CA1100773543

Gene: GCK

Linked Data

• gnomAD v3: 7-44146237-GTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCA-G
• gnomAD v4: 7-44146237-GTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146245_44146363del , CM000669.2:g.44146245_44146363del	GRCh38
NC_000007.13:g.44185844_44185962del , CM000669.1:g.44185844_44185962del	GRCh37
NC_000007.12:g.44152369_44152487del	NCBI36
NG_008847.1:g.48068_48186del
NG_008847.2:g.56815_56933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+107_*1017+225del	ENSP00000379142.4:n.*1017+107_*1017+225del
ENST00000616242.5:c.*139+107_*139+225del	ENSP00000482149.2:n.*139+107_*139+225del
ENST00000683378.1:n.245+107_245+225del
ENST00000345378.7:c.1022+107_1022+225del	ENSP00000223366.2:n.1022+107_1022+225del
ENST00000403799.8:c.1019+107_1019+225del MANE Select	ENSP00000384247.3:n.1019+107_1019+225del
ENST00000671824.1:c.1082+107_1082+225del	ENSP00000500264.1:n.1082+107_1082+225del
ENST00000673284.1:c.1019+107_1019+225del	ENSP00000499852.1:n.1019+107_1019+225del
ENST00000345378.6:c.1022+107_1022+225del	ENSP00000223366.2:n.1022+107_1022+225del
ENST00000395796.7:c.1016+107_1016+225del	ENSP00000379142.3:n.1016+107_1016+225del
ENST00000403799.7:c.1019+107_1019+225del	ENSP00000384247.3:n.1019+107_1019+225del
ENST00000437084.1:c.968+107_968+225del	ENSP00000402840.1:n.968+107_968+225del
ENST00000473353.1:n.317+107_317+225del
ENST00000616242.4:c.1016+107_1016+225del	ENSP00000482149.1:n.1016+107_1016+225del
NM_000162.3:c.1019+107_1019+225del	NP_000153.1:n.1019+107_1019+225del
NM_033507.1:c.1022+107_1022+225del	NP_277042.1:n.1022+107_1022+225del
NM_033508.1:c.1016+107_1016+225del	NP_277043.1:n.1016+107_1016+225del
NM_000162.4:c.1019+107_1019+225del	NP_000153.1:n.1019+107_1019+225del
NM_001354800.1:c.1019+107_1019+225del	NP_001341729.1:n.1019+107_1019+225del
NM_001354801.1:c.8+263_8+381del	NP_001341730.1:n.8+263_8+381del
NM_033507.2:c.1022+107_1022+225del	NP_277042.1:n.1022+107_1022+225del
NM_033508.2:c.1016+107_1016+225del	NP_277043.1:n.1016+107_1016+225del
NM_000162.5:c.1019+107_1019+225del MANE Select	NP_000153.1:n.1019+107_1019+225del
NM_033507.3:c.1022+107_1022+225del	NP_277042.1:n.1022+107_1022+225del
NM_033508.3:c.1016+107_1016+225del	NP_277043.1:n.1016+107_1016+225del