Canonical Allele Identifier: CA2266995219

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56848991_56848996delinsGTGTTT , CM000679.2:g.56848991_56848996delinsGTGTTT GRCh38
NC_000017.10:g.54926352_54926357delinsGTGTTT , CM000679.1:g.54926352_54926357delinsGTGTTT GRCh37
NC_000017.9:g.52281351_52281356delinsGTGTTT NCBI36
NG_033888.1:g.19893_19898delinsGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000284061.8:c.1046+138_1046+143delinsGTGTTT (DGKE) MANE Select ENSP00000284061.3:n.1046+138_1046+143delinsGTGTTT
ENST00000648772.1:c.*313+2947_*313+2952delinsAAACAC (TRIM25) ENSP00000498158.1:n.*313+2947_*313+2952delinsAAACAC
ENST00000284061.7:c.1046+138_1046+143delinsGTGTTT (DGKE) ENSP00000284061.3:n.1046+138_1046+143delinsGTGTTT
ENST00000572944.1:c.876+138_876+143delinsGTGTTT (DGKE)
NM_003647.2:c.1046+138_1046+143delinsGTGTTT (DGKE) NP_003638.1:n.1046+138_1046+143delinsGTGTTT
XM_011525394.1:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523696.1:n.1100+138_1100+143delinsGTGTTT
XM_011525395.1:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523697.1:n.1100+138_1100+143delinsGTGTTT
XM_011525396.1:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523698.1:n.1100+138_1100+143delinsGTGTTT
XM_011525397.1:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523699.1:n.1100+138_1100+143delinsGTGTTT
XM_011525398.1:c.590+138_590+143delinsGTGTTT (DGKE) XP_011523700.1:n.590+138_590+143delinsGTGTTT
XR_934581.1:n.1199+138_1199+143delinsGTGTTT (DGKE)
XM_011525394.3:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523696.1:n.1100+138_1100+143delinsGTGTTT
XM_011525395.2:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523697.1:n.1100+138_1100+143delinsGTGTTT
XM_011525396.2:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_011523698.1:n.1100+138_1100+143delinsGTGTTT
XM_017025243.2:c.1418+138_1418+143delinsGTGTTT (DGKE) XP_016880732.1:n.1418+138_1418+143delinsGTGTTT
XM_017025244.2:c.1100+138_1100+143delinsGTGTTT (DGKE) XP_016880733.1:n.1100+138_1100+143delinsGTGTTT
XR_001752670.2:n.1604+138_1604+143delinsGTGTTT (DGKE)
XR_001752671.1:n.1211+138_1211+143delinsGTGTTT (DGKE)
XR_001752672.1:n.1212+138_1212+143delinsGTGTTT (DGKE)
XR_002958079.1:n.1210+138_1210+143delinsGTGTTT (DGKE)
NM_003647.3:c.1046+138_1046+143delinsGTGTTT (DGKE) MANE Select NP_003638.1:n.1046+138_1046+143delinsGTGTTT