Canonical Allele Identifier: CA2573050986
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2503894
ClinVar RCV Id: RCV003230885
ERepo: CA2573050986/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150036_44150044dup , CM000669.2:g.44150036_44150044dup GRCh38
NC_000007.13:g.44189635_44189643dup , CM000669.1:g.44189635_44189643dup GRCh37
NC_000007.12:g.44156160_44156168dup NCBI36
NG_008847.1:g.44385_44393dup
NG_008847.2:g.53132_53140dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*507_*515dup ENSP00000379142.4:n.*507_*515dup
ENST00000616242.5:c.509_517dup ENSP00000482149.2:p.Lys172_Ala173insGlyPheLys
ENST00000682635.1:n.995_1003dup
ENST00000345378.7:c.512_520dup ENSP00000223366.2:p.Lys173_Ala174insGlyPheLys
ENST00000403799.8:c.509_517dup MANE Select ENSP00000384247.3:p.Lys172_Ala173insGlyPheLys
ENST00000671824.1:c.509_517dup ENSP00000500264.1:p.Lys172_Ala173insGlyPheLys
ENST00000673284.1:c.509_517dup ENSP00000499852.1:p.Lys172_Ala173insGlyPheLys
ENST00000345378.6:c.512_520dup ENSP00000223366.2:p.Lys173_Ala174insGlyPheLys
ENST00000395796.7:c.506_514dup ENSP00000379142.3:p.Lys171_Ala172insGlyPheLys
ENST00000403799.7:c.509_517dup ENSP00000384247.3:p.Lys172_Ala173insGlyPheLys
ENST00000437084.1:c.458_466dup ENSP00000402840.1:p.Lys155_Ala156insGlyPheLys
ENST00000616242.4:c.506_514dup ENSP00000482149.1:p.Lys171_Ala172insGlyPheLys
NM_000162.3:c.509_517dup NP_000153.1:p.Lys172_Ala173insGlyPheLys
NM_033507.1:c.512_520dup NP_277042.1:p.Lys173_Ala174insGlyPheLys
NM_033508.1:c.506_514dup NP_277043.1:p.Lys171_Ala172insGlyPheLys
NM_000162.4:c.509_517dup NP_000153.1:p.Lys172_Ala173insGlyPheLys
NM_001354800.1:c.509_517dup NP_001341729.1:p.Lys172_Ala173insGlyPheLys
NM_033507.2:c.512_520dup NP_277042.1:p.Lys173_Ala174insGlyPheLys
NM_033508.2:c.506_514dup NP_277043.1:p.Lys171_Ala172insGlyPheLys
NM_000162.5:c.509_517dup MANE Select NP_000153.1:p.Lys172_Ala173insGlyPheLys
NM_033507.3:c.512_520dup NP_277042.1:p.Lys173_Ala174insGlyPheLys
NM_033508.3:c.506_514dup NP_277043.1:p.Lys171_Ala172insGlyPheLys
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