Canonical Allele Identifier: CA2695203066

Gene: GCK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44146545_44146548dup , CM000669.2:g.44146545_44146548dup	GRCh38
NC_000007.13:g.44186144_44186147dup , CM000669.1:g.44186144_44186147dup	GRCh37
NC_000007.12:g.44152669_44152672dup	NCBI36
NG_008847.1:g.47876_47879dup
NG_008847.2:g.56623_56626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*932_*935dup	ENSP00000379142.4:n.*932_*935dup
ENST00000616242.5:c.*54_*57dup	ENSP00000482149.2:n.*54_*57dup
ENST00000683378.1:n.160_163dup
ENST00000345378.7:c.937_940dup	ENSP00000223366.2:p.Asn314ArgfsTer?
ENST00000403799.8:c.934_937dup MANE Select	ENSP00000384247.3:p.Asn313ArgfsTer?
ENST00000671824.1:c.997_1000dup	ENSP00000500264.1:p.Asn334ArgfsTer?
ENST00000673284.1:c.934_937dup	ENSP00000499852.1:p.Asn313ArgfsTer?
ENST00000345378.6:c.937_940dup	ENSP00000223366.2:p.Asn314ArgfsTer?
ENST00000395796.7:c.931_934dup	ENSP00000379142.3:p.Asn312ArgfsTer?
ENST00000403799.7:c.934_937dup	ENSP00000384247.3:p.Asn313ArgfsTer?
ENST00000437084.1:c.883_886dup	ENSP00000402840.1:p.Asn296ArgfsTer?
ENST00000473353.1:n.232_235dup
ENST00000616242.4:c.931_934dup	ENSP00000482149.1:p.Asn312ArgfsTer?
NM_000162.3:c.934_937dup	NP_000153.1:p.Asn313ArgfsTer?
NM_033507.1:c.937_940dup	NP_277042.1:p.Asn314ArgfsTer?
NM_033508.1:c.931_934dup	NP_277043.1:p.Asn312ArgfsTer?
NM_000162.4:c.934_937dup	NP_000153.1:p.Asn313ArgfsTer?
NM_001354800.1:c.934_937dup	NP_001341729.1:p.Asn313ArgfsTer?
NM_001354801.1:c.8+71_8+74dup	NP_001341730.1:n.8+71_8+74dup
NM_033507.2:c.937_940dup	NP_277042.1:p.Asn314ArgfsTer?
NM_033508.2:c.931_934dup	NP_277043.1:p.Asn312ArgfsTer?
NM_000162.5:c.934_937dup MANE Select	NP_000153.1:p.Asn313ArgfsTer?
NM_033507.3:c.937_940dup	NP_277042.1:p.Asn314ArgfsTer?
NM_033508.3:c.931_934dup	NP_277043.1:p.Asn312ArgfsTer?