Canonical Allele Identifier: CA2466787189

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773245C= , CM000685.2:g.154773245C=	GRCh38
NC_000023.10:g.154001520C= , CM000685.1:g.154001520C=	GRCh37
NC_000023.9:g.153654714C=	NCBI36
NG_009780.1:g.15490C= , LRG_55:g.15490C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1031C=	ENSP00000400542.2:p.Pro344=
ENST00000426673.6:c.*534C=	ENSP00000407253.3:n.*534C=
ENST00000484317.6:n.936C=
ENST00000696575.1:c.1151C=	ENSP00000512730.1:p.Pro384=
ENST00000696577.1:c.1151C=	ENSP00000512731.1:p.Pro384=
ENST00000696578.1:c.*103C=	ENSP00000512732.1:n.*103C=
ENST00000696579.1:n.1253C=
ENST00000696580.1:c.1064C=	ENSP00000512733.1:p.Pro355=
ENST00000696581.1:c.*1125C=	ENSP00000512734.1:n.*1125C=
ENST00000696582.1:c.*357C=	ENSP00000512735.1:n.*357C=
ENST00000696583.1:c.1112C=	ENSP00000512736.1:p.Pro371=
ENST00000696584.1:n.1675C=
ENST00000696585.1:n.1794C=
ENST00000696586.1:n.1568C=
ENST00000696587.1:c.1031C=	ENSP00000512737.1:p.Pro344=
ENST00000696588.1:c.542C=	ENSP00000513251.1:p.Pro181=
ENST00000696589.1:n.926C=
ENST00000696590.1:n.775C=
ENST00000696591.1:n.500C=
ENST00000696592.1:n.2030C=
ENST00000696627.1:c.1151C=	ENSP00000512764.1:p.Pro384=
ENST00000696628.1:c.1151C=	ENSP00000512765.1:p.Pro384=
ENST00000369550.10:c.1151C= MANE Select	ENSP00000358563.5:p.Pro384=
ENST00000369550.9:c.1151C=	ENSP00000358563.5:p.Pro384=
ENST00000412124.5:c.409C=
ENST00000426673.5:c.511C=
ENST00000475966.1:n.640C=
ENST00000481062.1:n.102C=
ENST00000620277.4:c.1151C=	ENSP00000478387.1:p.Pro384=
NM_001142463.2:c.1151C=	NP_001135935.1:p.Pro384=
NM_001288747.1:c.1151C=	NP_001275676.1:p.Pro384=
NM_001363.4:c.1151C=	NP_001354.1:p.Pro384=
NR_110021.1:n.1852C=
NR_110022.1:n.1971C=
NR_110023.1:n.1745C=
NM_001363.5:c.1151C= MANE Select	NP_001354.1:p.Pro384=
NM_001142463.3:c.1151C=	NP_001135935.1:p.Pro384=
NR_110021.2:n.1730C=
NR_110022.2:n.1849C=
NR_110023.2:n.1623C=
NM_001288747.2:c.1151C=	NP_001275676.1:p.Pro384=