Canonical Allele Identifier: CA2580077183
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1806735
ClinVar RCV Id: RCV002474164

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149829_44149830del , CM000669.2:g.44149829_44149830del GRCh38
NC_000007.13:g.44189428_44189429del , CM000669.1:g.44189428_44189429del GRCh37
NC_000007.12:g.44155953_44155954del NCBI36
NG_008847.1:g.44594_44595del
NG_008847.2:g.53341_53342del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*607_*608del ENSP00000379142.4:n.*607_*608del
ENST00000616242.5:c.609_610del ENSP00000482149.2:p.Asn204Ter
ENST00000682635.1:n.1095_1096del
ENST00000345378.7:c.612_613del ENSP00000223366.2:p.Asn205Ter
ENST00000403799.8:c.609_610del MANE Select ENSP00000384247.3:p.Asn204Ter
ENST00000671824.1:c.609_610del ENSP00000500264.1:p.Asn204Ter
ENST00000673284.1:c.609_610del ENSP00000499852.1:p.Asn204Ter
ENST00000345378.6:c.612_613del ENSP00000223366.2:p.Asn205Ter
ENST00000395796.7:c.606_607del ENSP00000379142.3:p.Asn203Ter
ENST00000403799.7:c.609_610del ENSP00000384247.3:p.Asn204Ter
ENST00000437084.1:c.558_559del ENSP00000402840.1:p.Asn187Ter
ENST00000616242.4:c.606_607del ENSP00000482149.1:p.Asn203Ter
NM_000162.3:c.609_610del NP_000153.1:p.Asn204Ter
NM_033507.1:c.612_613del NP_277042.1:p.Asn205Ter
NM_033508.1:c.606_607del NP_277043.1:p.Asn203Ter
NM_000162.4:c.609_610del NP_000153.1:p.Asn204Ter
NM_001354800.1:c.609_610del NP_001341729.1:p.Asn204Ter
NM_033507.2:c.612_613del NP_277042.1:p.Asn205Ter
NM_033508.2:c.606_607del NP_277043.1:p.Asn203Ter
NM_000162.5:c.609_610del MANE Select NP_000153.1:p.Asn204Ter
NM_033507.3:c.612_613del NP_277042.1:p.Asn205Ter
NM_033508.3:c.606_607del NP_277043.1:p.Asn203Ter