Canonical Allele Identifier: CA2682585935

Gene: GCK

Linked Data

• gnomAD v4: 7-44146463-CTCTCCACCTGCGACACGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146464_44146482del , CM000669.2:g.44146464_44146482del	GRCh38
NC_000007.13:g.44186063_44186081del , CM000669.1:g.44186063_44186081del	GRCh37
NC_000007.12:g.44152588_44152606del	NCBI36
NG_008847.1:g.47942_47960del
NG_008847.2:g.56689_56707del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*998_*1016del	ENSP00000379142.4:n.*998_*1016del
ENST00000616242.5:c.*120_*138del	ENSP00000482149.2:n.*120_*138del
ENST00000683378.1:n.226_244del
ENST00000345378.7:c.1003_1021del	ENSP00000223366.2:p.Phe335AlafsTer13
ENST00000403799.8:c.1000_1018del MANE Select	ENSP00000384247.3:p.Phe334AlafsTer13
ENST00000671824.1:c.1063_1081del	ENSP00000500264.1:p.Phe355AlafsTer13
ENST00000673284.1:c.1000_1018del	ENSP00000499852.1:p.Phe334AlafsTer13
ENST00000345378.6:c.1003_1021del	ENSP00000223366.2:p.Phe335AlafsTer13
ENST00000395796.7:c.997_1015del	ENSP00000379142.3:p.Phe333AlafsTer13
ENST00000403799.7:c.1000_1018del	ENSP00000384247.3:p.Phe334AlafsTer13
ENST00000437084.1:c.949_967del	ENSP00000402840.1:p.Phe317AlafsTer13
ENST00000473353.1:n.298_316del
ENST00000616242.4:c.997_1015del	ENSP00000482149.1:p.Phe333AlafsTer13
NM_000162.3:c.1000_1018del	NP_000153.1:p.Phe334AlafsTer13
NM_033507.1:c.1003_1021del	NP_277042.1:p.Phe335AlafsTer13
NM_033508.1:c.997_1015del	NP_277043.1:p.Phe333AlafsTer13
NM_000162.4:c.1000_1018del	NP_000153.1:p.Phe334AlafsTer13
NM_001354800.1:c.1000_1018del	NP_001341729.1:p.Phe334AlafsTer13
NM_001354801.1:c.8+137_8+155del	NP_001341730.1:n.8+137_8+155del
NM_033507.2:c.1003_1021del	NP_277042.1:p.Phe335AlafsTer13
NM_033508.2:c.997_1015del	NP_277043.1:p.Phe333AlafsTer13
NM_000162.5:c.1000_1018del MANE Select	NP_000153.1:p.Phe334AlafsTer13
NM_033507.3:c.1003_1021del	NP_277042.1:p.Phe335AlafsTer13
NM_033508.3:c.997_1015del	NP_277043.1:p.Phe333AlafsTer13