Canonical Allele Identifier: CA2695203084
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147677_44147678del , CM000669.2:g.44147677_44147678del GRCh38
NC_000007.13:g.44187276_44187277del , CM000669.1:g.44187276_44187277del GRCh37
NC_000007.12:g.44153801_44153802del NCBI36
NG_008847.1:g.46749_46750del
NG_008847.2:g.55496_55497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*836_*837del ENSP00000379142.4:n.*836_*837del
ENST00000616242.5:c.838_839del ENSP00000482149.2:p.Ser280LeufsTer?
ENST00000345378.7:c.841_842del ENSP00000223366.2:p.Ser281LeufsTer10
ENST00000403799.8:c.838_839del MANE Select ENSP00000384247.3:p.Ser280LeufsTer10
ENST00000671824.1:c.838_839del ENSP00000500264.1:p.Ser280LeufsTer6
ENST00000673284.1:c.838_839del ENSP00000499852.1:p.Ser280LeufsTer10
ENST00000345378.6:c.841_842del ENSP00000223366.2:p.Ser281LeufsTer10
ENST00000395796.7:c.835_836del ENSP00000379142.3:p.Ser279LeufsTer10
ENST00000403799.7:c.838_839del ENSP00000384247.3:p.Ser280LeufsTer10
ENST00000437084.1:c.787_788del ENSP00000402840.1:p.Ser263LeufsTer10
ENST00000616242.4:c.835_836del ENSP00000482149.1:p.Ser279LeufsTer10
NM_000162.3:c.838_839del NP_000153.1:p.Ser280LeufsTer10
NM_033507.1:c.841_842del NP_277042.1:p.Ser281LeufsTer10
NM_033508.1:c.835_836del NP_277043.1:p.Ser279LeufsTer10
XR_927223.1:n.11_12del
NM_000162.4:c.838_839del NP_000153.1:p.Ser280LeufsTer10
NM_001354800.1:c.838_839del NP_001341729.1:p.Ser280LeufsTer10
NM_033507.2:c.841_842del NP_277042.1:p.Ser281LeufsTer10
NM_033508.2:c.835_836del NP_277043.1:p.Ser279LeufsTer10
XR_927223.2:n.11_12del
NM_000162.5:c.838_839del MANE Select NP_000153.1:p.Ser280LeufsTer10
NM_033507.3:c.841_842del NP_277042.1:p.Ser281LeufsTer10
NM_033508.3:c.835_836del NP_277043.1:p.Ser279LeufsTer10
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