Canonical Allele Identifier: CA2466787187

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773243T= , CM000685.2:g.154773243T=	GRCh38
NC_000023.10:g.154001518T= , CM000685.1:g.154001518T=	GRCh37
NC_000023.9:g.153654712T=	NCBI36
NG_009780.1:g.15488T= , LRG_55:g.15488T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1029T=	ENSP00000400542.2:p.Gly343=
ENST00000426673.6:c.*532T=	ENSP00000407253.3:n.*532T=
ENST00000484317.6:n.934T=
ENST00000696575.1:c.1149T=	ENSP00000512730.1:p.Gly383=
ENST00000696577.1:c.1149T=	ENSP00000512731.1:p.Gly383=
ENST00000696578.1:c.*101T=	ENSP00000512732.1:n.*101T=
ENST00000696579.1:n.1251T=
ENST00000696580.1:c.1062T=	ENSP00000512733.1:p.Gly354=
ENST00000696581.1:c.*1123T=	ENSP00000512734.1:n.*1123T=
ENST00000696582.1:c.*355T=	ENSP00000512735.1:n.*355T=
ENST00000696583.1:c.1110T=	ENSP00000512736.1:p.Gly370=
ENST00000696584.1:n.1673T=
ENST00000696585.1:n.1792T=
ENST00000696586.1:n.1566T=
ENST00000696587.1:c.1029T=	ENSP00000512737.1:p.Gly343=
ENST00000696588.1:c.540T=	ENSP00000513251.1:p.Gly180=
ENST00000696589.1:n.924T=
ENST00000696590.1:n.773T=
ENST00000696591.1:n.498T=
ENST00000696592.1:n.2028T=
ENST00000696627.1:c.1149T=	ENSP00000512764.1:p.Gly383=
ENST00000696628.1:c.1149T=	ENSP00000512765.1:p.Gly383=
ENST00000369550.10:c.1149T= MANE Select	ENSP00000358563.5:p.Gly383=
ENST00000369550.9:c.1149T=	ENSP00000358563.5:p.Gly383=
ENST00000412124.5:c.407T=
ENST00000426673.5:c.509T=
ENST00000475966.1:n.638T=
ENST00000481062.1:n.100T=
ENST00000620277.4:c.1149T=	ENSP00000478387.1:p.Gly383=
NM_001142463.2:c.1149T=	NP_001135935.1:p.Gly383=
NM_001288747.1:c.1149T=	NP_001275676.1:p.Gly383=
NM_001363.4:c.1149T=	NP_001354.1:p.Gly383=
NR_110021.1:n.1850T=
NR_110022.1:n.1969T=
NR_110023.1:n.1743T=
NM_001363.5:c.1149T= MANE Select	NP_001354.1:p.Gly383=
NM_001142463.3:c.1149T=	NP_001135935.1:p.Gly383=
NR_110021.2:n.1728T=
NR_110022.2:n.1847T=
NR_110023.2:n.1621T=
NM_001288747.2:c.1149T=	NP_001275676.1:p.Gly383=