Canonical Allele Identifier: CA2466787186

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773242_154773243delinsGT , CM000685.2:g.154773242_154773243delinsGT	GRCh38
NC_000023.10:g.154001517_154001518delinsGT , CM000685.1:g.154001517_154001518delinsGT	GRCh37
NC_000023.9:g.153654711_153654712delinsGT	NCBI36
NG_009780.1:g.15487_15488delinsGT , LRG_55:g.15487_15488delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1028_1029delinsGT	ENSP00000400542.2:p.Gly343=
ENST00000426673.6:c.*531_*532delinsGT	ENSP00000407253.3:n.*531_*532delinsGT
ENST00000484317.6:n.933_934delinsGT
ENST00000696575.1:c.1148_1149delinsGT	ENSP00000512730.1:p.Gly383=
ENST00000696577.1:c.1148_1149delinsGT	ENSP00000512731.1:p.Gly383=
ENST00000696578.1:c.*100_*101delinsGT	ENSP00000512732.1:n.*100_*101delinsGT
ENST00000696579.1:n.1250_1251delinsGT
ENST00000696580.1:c.1061_1062delinsGT	ENSP00000512733.1:p.Gly354=
ENST00000696581.1:c.*1122_*1123delinsGT	ENSP00000512734.1:n.*1122_*1123delinsGT
ENST00000696582.1:c.*354_*355delinsGT	ENSP00000512735.1:n.*354_*355delinsGT
ENST00000696583.1:c.1109_1110delinsGT	ENSP00000512736.1:p.Gly370=
ENST00000696584.1:n.1672_1673delinsGT
ENST00000696585.1:n.1791_1792delinsGT
ENST00000696586.1:n.1565_1566delinsGT
ENST00000696587.1:c.1028_1029delinsGT	ENSP00000512737.1:p.Gly343=
ENST00000696588.1:c.539_540delinsGT	ENSP00000513251.1:p.Gly180=
ENST00000696589.1:n.923_924delinsGT
ENST00000696590.1:n.772_773delinsGT
ENST00000696591.1:n.497_498delinsGT
ENST00000696592.1:n.2027_2028delinsGT
ENST00000696627.1:c.1148_1149delinsGT	ENSP00000512764.1:p.Gly383=
ENST00000696628.1:c.1148_1149delinsGT	ENSP00000512765.1:p.Gly383=
ENST00000369550.10:c.1148_1149delinsGT MANE Select	ENSP00000358563.5:p.Gly383=
ENST00000369550.9:c.1148_1149delinsGT	ENSP00000358563.5:p.Gly383=
ENST00000412124.5:c.406_407delinsGT
ENST00000426673.5:c.508_509delinsGT
ENST00000475966.1:n.637_638delinsGT
ENST00000481062.1:n.99_100delinsGT
ENST00000620277.4:c.1148_1149delinsGT	ENSP00000478387.1:p.Gly383=
NM_001142463.2:c.1148_1149delinsGT	NP_001135935.1:p.Gly383=
NM_001288747.1:c.1148_1149delinsGT	NP_001275676.1:p.Gly383=
NM_001363.4:c.1148_1149delinsGT	NP_001354.1:p.Gly383=
NR_110021.1:n.1849_1850delinsGT
NR_110022.1:n.1968_1969delinsGT
NR_110023.1:n.1742_1743delinsGT
NM_001363.5:c.1148_1149delinsGT MANE Select	NP_001354.1:p.Gly383=
NM_001142463.3:c.1148_1149delinsGT	NP_001135935.1:p.Gly383=
NR_110021.2:n.1727_1728delinsGT
NR_110022.2:n.1846_1847delinsGT
NR_110023.2:n.1620_1621delinsGT
NM_001288747.2:c.1148_1149delinsGT	NP_001275676.1:p.Gly383=