Canonical Allele Identifier: CA2466784742

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765949C= , CM000685.2:g.154765949C=	GRCh38
NC_000023.10:g.153994224C= , CM000685.1:g.153994224C=	GRCh37
NC_000023.9:g.153647418C=	NCBI36
NG_009780.1:g.8194C= , LRG_55:g.8194C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.214C=	ENSP00000400542.2:p.Leu72=
ENST00000426673.6:c.214C=	ENSP00000407253.3:p.Leu72=
ENST00000696575.1:c.214C=	ENSP00000512730.1:p.Leu72=
ENST00000696576.1:n.316C=
ENST00000696577.1:c.214C=	ENSP00000512731.1:p.Leu72=
ENST00000696578.1:c.214C=	ENSP00000512732.1:p.Leu72=
ENST00000696579.1:n.316C=
ENST00000696580.1:c.127C=	ENSP00000512733.1:p.Leu43=
ENST00000696581.1:c.*188C=	ENSP00000512734.1:n.*188C=
ENST00000696582.1:c.214C=	ENSP00000512735.1:p.Leu72=
ENST00000696583.1:c.214C=	ENSP00000512736.1:p.Leu72=
ENST00000696584.1:n.738C=
ENST00000696585.1:n.261C=
ENST00000696586.1:n.261C=
ENST00000696587.1:c.214C=	ENSP00000512737.1:p.Leu72=
ENST00000696588.1:c.-396C=	ENSP00000513251.1:n.-396C=
ENST00000696627.1:c.214C=	ENSP00000512764.1:p.Leu72=
ENST00000696628.1:c.214C=	ENSP00000512765.1:p.Leu72=
ENST00000369550.10:c.214C= MANE Select	ENSP00000358563.5:p.Leu72=
ENST00000369550.9:c.214C=	ENSP00000358563.5:p.Leu72=
ENST00000413910.5:c.214C=	ENSP00000400542.1:p.Leu72=
ENST00000437719.5:c.170C=
ENST00000452771.5:c.172C=	ENSP00000407325.1:p.Leu58=
ENST00000473552.1:n.267C=
ENST00000620277.4:c.214C=	ENSP00000478387.1:p.Leu72=
NM_001142463.2:c.214C=	NP_001135935.1:p.Leu72=
NM_001288747.1:c.214C=	NP_001275676.1:p.Leu72=
NM_001363.4:c.214C=	NP_001354.1:p.Leu72=
NR_110021.1:n.915C=
NR_110022.1:n.438C=
NR_110023.1:n.438C=
NM_001363.5:c.214C= MANE Select	NP_001354.1:p.Leu72=
NM_001142463.3:c.214C=	NP_001135935.1:p.Leu72=
NR_110021.2:n.793C=
NR_110022.2:n.316C=
NR_110023.2:n.316C=
NM_001288747.2:c.214C=	NP_001275676.1:p.Leu72=