Canonical Allele Identifier: CA10567181

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774613G>A , CM000685.2:g.154774613G>A	GRCh38
NC_000023.10:g.154002888G>A , CM000685.1:g.154002888G>A	GRCh37
NC_000023.9:g.153656082G>A	NCBI36
NG_009780.1:g.16858G>A , LRG_55:g.16858G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.1167G>A MANE Select	NP_001354.1:p.Lys389=
ENST00000369550.10:c.1167G>A MANE Select	ENSP00000358563.5:p.Lys389=
NM_001142463.2:c.1167G>A	NP_001135935.1:p.Lys389=
NM_001142463.3:c.1167G>A	NP_001135935.1:p.Lys389=
NM_001288747.1:c.1167G>A	NP_001275676.1:p.Lys389=
NM_001288747.2:c.1167G>A	NP_001275676.1:p.Lys389=
NM_001363.4:c.1167G>A	NP_001354.1:p.Lys389=
NR_110021.1:n.1868G>A
NR_110021.2:n.1746G>A
NR_110022.1:n.1987G>A
NR_110022.2:n.1865G>A
NR_110023.1:n.1761G>A
NR_110023.2:n.1639G>A
ENST00000369550.9:c.1167G>A	ENSP00000358563.5:p.Lys389=
ENST00000412124.5:c.425G>A
ENST00000413910.6:c.1047G>A	ENSP00000400542.2:p.Lys349=
ENST00000426673.5:c.527G>A
ENST00000426673.6:c.*550G>A	ENSP00000407253.3:n.*550G>A
ENST00000475966.1:n.656G>A
ENST00000481062.1:n.118G>A
ENST00000484317.6:n.952G>A
ENST00000620277.4:c.1167G>A	ENSP00000478387.1:p.Lys389=
ENST00000696575.1:c.1167G>A	ENSP00000512730.1:p.Lys389=
ENST00000696577.1:c.1167G>A	ENSP00000512731.1:p.Lys389=
ENST00000696578.1:c.*119G>A	ENSP00000512732.1:n.*119G>A
ENST00000696579.1:n.1269G>A
ENST00000696580.1:c.1080G>A	ENSP00000512733.1:p.Lys360=
ENST00000696581.1:c.*1141G>A	ENSP00000512734.1:n.*1141G>A
ENST00000696582.1:c.*373G>A	ENSP00000512735.1:n.*373G>A
ENST00000696583.1:c.1128G>A	ENSP00000512736.1:p.Lys376=
ENST00000696584.1:n.1691G>A
ENST00000696585.1:n.1810G>A
ENST00000696586.1:n.1584G>A
ENST00000696587.1:c.1047G>A	ENSP00000512737.1:p.Lys349=
ENST00000696588.1:c.558G>A	ENSP00000513251.1:p.Lys186=
ENST00000696589.1:n.942G>A
ENST00000696590.1:n.791G>A
ENST00000696591.1:n.516G>A
ENST00000696592.1:n.2046G>A
ENST00000696627.1:c.1166G>A	ENSP00000512764.1:p.Arg389Lys
ENST00000696628.1:c.1167G>A	ENSP00000512765.1:p.Lys389=