Canonical Allele Identifier: CA2466787169

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773152C= , CM000685.2:g.154773152C=	GRCh38
NC_000023.10:g.154001427C= , CM000685.1:g.154001427C=	GRCh37
NC_000023.9:g.153654621C=	NCBI36
NG_009780.1:g.15397C= , LRG_55:g.15397C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.938C=	ENSP00000400542.2:p.Ala313=
ENST00000426673.6:c.*441C=	ENSP00000407253.3:n.*441C=
ENST00000484317.6:n.843C=
ENST00000696575.1:c.1058C=	ENSP00000512730.1:p.Ala353=
ENST00000696577.1:c.1058C=	ENSP00000512731.1:p.Ala353=
ENST00000696578.1:c.*10C=	ENSP00000512732.1:n.*10C=
ENST00000696579.1:n.1160C=
ENST00000696580.1:c.971C=	ENSP00000512733.1:p.Ala324=
ENST00000696581.1:c.*1032C=	ENSP00000512734.1:n.*1032C=
ENST00000696582.1:c.*264C=	ENSP00000512735.1:n.*264C=
ENST00000696583.1:c.1019C=	ENSP00000512736.1:p.Ala340=
ENST00000696584.1:n.1582C=
ENST00000696585.1:n.1701C=
ENST00000696586.1:n.1475C=
ENST00000696587.1:c.938C=	ENSP00000512737.1:p.Ala313=
ENST00000696588.1:c.449C=	ENSP00000513251.1:p.Ala150=
ENST00000696589.1:n.833C=
ENST00000696590.1:n.682C=
ENST00000696591.1:n.407C=
ENST00000696592.1:n.1937C=
ENST00000696627.1:c.1058C=	ENSP00000512764.1:p.Ala353=
ENST00000696628.1:c.1058C=	ENSP00000512765.1:p.Ala353=
ENST00000369550.10:c.1058C= MANE Select	ENSP00000358563.5:p.Ala353=
ENST00000369550.9:c.1058C=	ENSP00000358563.5:p.Ala353=
ENST00000412124.5:c.316C=
ENST00000426673.5:c.418C=
ENST00000475966.1:n.547C=
ENST00000481062.1:n.9C=
ENST00000620277.4:c.1058C=	ENSP00000478387.1:p.Ala353=
NM_001142463.2:c.1058C=	NP_001135935.1:p.Ala353=
NM_001288747.1:c.1058C=	NP_001275676.1:p.Ala353=
NM_001363.4:c.1058C=	NP_001354.1:p.Ala353=
NR_110021.1:n.1759C=
NR_110022.1:n.1878C=
NR_110023.1:n.1652C=
NM_001363.5:c.1058C= MANE Select	NP_001354.1:p.Ala353=
NM_001142463.3:c.1058C=	NP_001135935.1:p.Ala353=
NR_110021.2:n.1637C=
NR_110022.2:n.1756C=
NR_110023.2:n.1530C=
NM_001288747.2:c.1058C=	NP_001275676.1:p.Ala353=