Canonical Allele Identifier: CA1100773588

Gene: GCK

Linked Data

• gnomAD v3: 7-44146252-TCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCA-T
• gnomAD v4: 7-44146252-TCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146257_44146326del , CM000669.2:g.44146257_44146326del	GRCh38
NC_000007.13:g.44185856_44185925del , CM000669.1:g.44185856_44185925del	GRCh37
NC_000007.12:g.44152381_44152450del	NCBI36
NG_008847.1:g.48102_48171del
NG_008847.2:g.56849_56918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+141_*1017+210del	ENSP00000379142.4:n.*1017+141_*1017+210del
ENST00000616242.5:c.*139+141_*139+210del	ENSP00000482149.2:n.*139+141_*139+210del
ENST00000683378.1:n.245+141_245+210del
ENST00000345378.7:c.1022+141_1022+210del	ENSP00000223366.2:n.1022+141_1022+210del
ENST00000403799.8:c.1019+141_1019+210del MANE Select	ENSP00000384247.3:n.1019+141_1019+210del
ENST00000671824.1:c.1082+141_1082+210del	ENSP00000500264.1:n.1082+141_1082+210del
ENST00000673284.1:c.1019+141_1019+210del	ENSP00000499852.1:n.1019+141_1019+210del
ENST00000345378.6:c.1022+141_1022+210del	ENSP00000223366.2:n.1022+141_1022+210del
ENST00000395796.7:c.1016+141_1016+210del	ENSP00000379142.3:n.1016+141_1016+210del
ENST00000403799.7:c.1019+141_1019+210del	ENSP00000384247.3:n.1019+141_1019+210del
ENST00000437084.1:c.968+141_968+210del	ENSP00000402840.1:n.968+141_968+210del
ENST00000473353.1:n.317+141_317+210del
ENST00000616242.4:c.1016+141_1016+210del	ENSP00000482149.1:n.1016+141_1016+210del
NM_000162.3:c.1019+141_1019+210del	NP_000153.1:n.1019+141_1019+210del
NM_033507.1:c.1022+141_1022+210del	NP_277042.1:n.1022+141_1022+210del
NM_033508.1:c.1016+141_1016+210del	NP_277043.1:n.1016+141_1016+210del
NM_000162.4:c.1019+141_1019+210del	NP_000153.1:n.1019+141_1019+210del
NM_001354800.1:c.1019+141_1019+210del	NP_001341729.1:n.1019+141_1019+210del
NM_001354801.1:c.8+297_8+366del	NP_001341730.1:n.8+297_8+366del
NM_033507.2:c.1022+141_1022+210del	NP_277042.1:n.1022+141_1022+210del
NM_033508.2:c.1016+141_1016+210del	NP_277043.1:n.1016+141_1016+210del
NM_000162.5:c.1019+141_1019+210del MANE Select	NP_000153.1:n.1019+141_1019+210del
NM_033507.3:c.1022+141_1022+210del	NP_277042.1:n.1022+141_1022+210del
NM_033508.3:c.1016+141_1016+210del	NP_277043.1:n.1016+141_1016+210del