Canonical Allele Identifier: CA2682583866

Gene: GCK

Linked Data

• gnomAD v4: 7-44146152-CTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146156_44146199del , CM000669.2:g.44146156_44146199del	GRCh38
NC_000007.13:g.44185755_44185798del , CM000669.1:g.44185755_44185798del	GRCh37
NC_000007.12:g.44152280_44152323del	NCBI36
NG_008847.1:g.48228_48271del
NG_008847.2:g.56975_57018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1017+267_*1017+310del	ENSP00000379142.4:n.*1017+267_*1017+310del
ENST00000616242.5:c.*139+267_*139+310del	ENSP00000482149.2:n.*139+267_*139+310del
ENST00000683378.1:n.245+267_245+310del
ENST00000345378.7:c.1022+267_1022+310del	ENSP00000223366.2:n.1022+267_1022+310del
ENST00000403799.8:c.1019+267_1019+310del MANE Select	ENSP00000384247.3:n.1019+267_1019+310del
ENST00000671824.1:c.1082+267_1082+310del	ENSP00000500264.1:n.1082+267_1082+310del
ENST00000673284.1:c.1019+267_1019+310del	ENSP00000499852.1:n.1019+267_1019+310del
ENST00000345378.6:c.1022+267_1022+310del	ENSP00000223366.2:n.1022+267_1022+310del
ENST00000395796.7:c.1016+267_1016+310del	ENSP00000379142.3:n.1016+267_1016+310del
ENST00000403799.7:c.1019+267_1019+310del	ENSP00000384247.3:n.1019+267_1019+310del
ENST00000437084.1:c.968+267_968+310del	ENSP00000402840.1:n.968+267_968+310del
ENST00000473353.1:n.317+267_317+310del
ENST00000616242.4:c.1016+267_1016+310del	ENSP00000482149.1:n.1016+267_1016+310del
NM_000162.3:c.1019+267_1019+310del	NP_000153.1:n.1019+267_1019+310del
NM_033507.1:c.1022+267_1022+310del	NP_277042.1:n.1022+267_1022+310del
NM_033508.1:c.1016+267_1016+310del	NP_277043.1:n.1016+267_1016+310del
NM_000162.4:c.1019+267_1019+310del	NP_000153.1:n.1019+267_1019+310del
NM_001354800.1:c.1019+267_1019+310del	NP_001341729.1:n.1019+267_1019+310del
NM_001354801.1:c.8+423_9-423del	NP_001341730.1:n.8+423_9-423del
NM_033507.2:c.1022+267_1022+310del	NP_277042.1:n.1022+267_1022+310del
NM_033508.2:c.1016+267_1016+310del	NP_277043.1:n.1016+267_1016+310del
NM_000162.5:c.1019+267_1019+310del MANE Select	NP_000153.1:n.1019+267_1019+310del
NM_033507.3:c.1022+267_1022+310del	NP_277042.1:n.1022+267_1022+310del
NM_033508.3:c.1016+267_1016+310del	NP_277043.1:n.1016+267_1016+310del