Canonical Allele Identifier: CA2466787180

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773204C= , CM000685.2:g.154773204C=	GRCh38
NC_000023.10:g.154001479C= , CM000685.1:g.154001479C=	GRCh37
NC_000023.9:g.153654673C=	NCBI36
NG_009780.1:g.15449C= , LRG_55:g.15449C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.990C=	ENSP00000400542.2:p.Ile330=
ENST00000426673.6:c.*493C=	ENSP00000407253.3:n.*493C=
ENST00000484317.6:n.895C=
ENST00000696575.1:c.1110C=	ENSP00000512730.1:p.Ile370=
ENST00000696577.1:c.1110C=	ENSP00000512731.1:p.Ile370=
ENST00000696578.1:c.*62C=	ENSP00000512732.1:n.*62C=
ENST00000696579.1:n.1212C=
ENST00000696580.1:c.1023C=	ENSP00000512733.1:p.Ile341=
ENST00000696581.1:c.*1084C=	ENSP00000512734.1:n.*1084C=
ENST00000696582.1:c.*316C=	ENSP00000512735.1:n.*316C=
ENST00000696583.1:c.1071C=	ENSP00000512736.1:p.Ile357=
ENST00000696584.1:n.1634C=
ENST00000696585.1:n.1753C=
ENST00000696586.1:n.1527C=
ENST00000696587.1:c.990C=	ENSP00000512737.1:p.Ile330=
ENST00000696588.1:c.501C=	ENSP00000513251.1:p.Ile167=
ENST00000696589.1:n.885C=
ENST00000696590.1:n.734C=
ENST00000696591.1:n.459C=
ENST00000696592.1:n.1989C=
ENST00000696627.1:c.1110C=	ENSP00000512764.1:p.Ile370=
ENST00000696628.1:c.1110C=	ENSP00000512765.1:p.Ile370=
ENST00000369550.10:c.1110C= MANE Select	ENSP00000358563.5:p.Ile370=
ENST00000369550.9:c.1110C=	ENSP00000358563.5:p.Ile370=
ENST00000412124.5:c.368C=
ENST00000426673.5:c.470C=
ENST00000475966.1:n.599C=
ENST00000481062.1:n.61C=
ENST00000620277.4:c.1110C=	ENSP00000478387.1:p.Ile370=
NM_001142463.2:c.1110C=	NP_001135935.1:p.Ile370=
NM_001288747.1:c.1110C=	NP_001275676.1:p.Ile370=
NM_001363.4:c.1110C=	NP_001354.1:p.Ile370=
NR_110021.1:n.1811C=
NR_110022.1:n.1930C=
NR_110023.1:n.1704C=
NM_001363.5:c.1110C= MANE Select	NP_001354.1:p.Ile370=
NM_001142463.3:c.1110C=	NP_001135935.1:p.Ile370=
NR_110021.2:n.1689C=
NR_110022.2:n.1808C=
NR_110023.2:n.1582C=
NM_001288747.2:c.1110C=	NP_001275676.1:p.Ile370=