Canonical Allele Identifier: CA2695202984
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145539_44145540del , CM000669.2:g.44145539_44145540del GRCh38
NC_000007.13:g.44185138_44185139del , CM000669.1:g.44185138_44185139del GRCh37
NC_000007.12:g.44151663_44151664del NCBI36
NG_008847.1:g.48884_48885del
NG_008847.2:g.57631_57632del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1208_*1209del ENSP00000379142.4:n.*1208_*1209del
ENST00000616242.5:c.*330_*331del ENSP00000482149.2:n.*330_*331del
ENST00000683378.1:n.436_437del
ENST00000336642.9:c.244_245del ENSP00000338009.5:p.Ile82HisfsTer?
ENST00000345378.7:c.1213_1214del ENSP00000223366.2:p.Ile405HisfsTer?
ENST00000403799.8:c.1210_1211del MANE Select ENSP00000384247.3:p.Ile404HisfsTer?
ENST00000671824.1:c.1273_1274del ENSP00000500264.1:p.Ile425HisfsTer?
ENST00000672743.1:n.222_223del
ENST00000673284.1:c.1210_1211del ENSP00000499852.1:p.Ile404HisfsTer?
ENST00000336642.8:c.262_263del ENSP00000338009.4:p.Ile88HisfsTer?
ENST00000345378.6:c.1213_1214del ENSP00000223366.2:p.Ile405HisfsTer?
ENST00000395796.7:c.1207_1208del ENSP00000379142.3:p.Ile403HisfsTer?
ENST00000403799.7:c.1210_1211del ENSP00000384247.3:p.Ile404HisfsTer?
ENST00000437084.1:c.1159_1160del ENSP00000402840.1:p.Ile387HisfsTer?
ENST00000459642.1:n.590_591del
ENST00000616242.4:c.1207_1208del ENSP00000482149.1:p.Ile403HisfsTer?
NM_000162.3:c.1210_1211del NP_000153.1:p.Ile404HisfsTer?
NM_033507.1:c.1213_1214del NP_277042.1:p.Ile405HisfsTer?
NM_033508.1:c.1207_1208del NP_277043.1:p.Ile403HisfsTer?
NM_000162.4:c.1210_1211del NP_000153.1:p.Ile404HisfsTer?
NM_001354800.1:c.1210_1211del NP_001341729.1:p.Ile404HisfsTer?
NM_001354801.1:c.199_200del NP_001341730.1:p.Ile67HisfsTer?
NM_001354802.1:c.70_71del NP_001341731.1:p.Ile24HisfsTer?
NM_001354803.1:c.244_245del NP_001341732.1:p.Ile82HisfsTer?
NM_033507.2:c.1213_1214del NP_277042.1:p.Ile405HisfsTer?
NM_033508.2:c.1207_1208del NP_277043.1:p.Ile403HisfsTer?
XM_024446707.1:c.70_71del XP_024302475.1:p.Ile24HisfsTer?
NM_000162.5:c.1210_1211del MANE Select NP_000153.1:p.Ile404HisfsTer?
NM_033507.3:c.1213_1214del NP_277042.1:p.Ile405HisfsTer?
NM_033508.3:c.1207_1208del NP_277043.1:p.Ile403HisfsTer?
NM_001354803.2:c.244_245del NP_001341732.1:p.Ile82HisfsTer?