Canonical Allele Identifier: CA2466785835

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769272T= , CM000685.2:g.154769272T=	GRCh38
NC_000023.10:g.153997547T= , CM000685.1:g.153997547T=	GRCh37
NC_000023.9:g.153650741T=	NCBI36
NG_009780.1:g.11517T= , LRG_55:g.11517T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.757T=	ENSP00000400542.2:p.Leu253=
ENST00000426673.6:c.*260T=	ENSP00000407253.3:n.*260T=
ENST00000484317.6:n.662T=
ENST00000696575.1:c.877T=	ENSP00000512730.1:p.Leu293=
ENST00000696576.1:n.979T=
ENST00000696577.1:c.877T=	ENSP00000512731.1:p.Leu293=
ENST00000696578.1:c.877T=	ENSP00000512732.1:p.Leu293=
ENST00000696579.1:n.979T=
ENST00000696580.1:c.790T=	ENSP00000512733.1:p.Leu264=
ENST00000696581.1:c.*851T=	ENSP00000512734.1:n.*851T=
ENST00000696582.1:c.*83T=	ENSP00000512735.1:n.*83T=
ENST00000696583.1:c.838T=	ENSP00000512736.1:p.Leu280=
ENST00000696584.1:n.1401T=
ENST00000696585.1:n.1520T=
ENST00000696586.1:n.1294T=
ENST00000696587.1:c.757T=	ENSP00000512737.1:p.Leu253=
ENST00000696588.1:c.268T=	ENSP00000513251.1:p.Leu90=
ENST00000696589.1:n.652T=
ENST00000696590.1:n.501T=
ENST00000696591.1:n.226T=
ENST00000696627.1:c.877T=	ENSP00000512764.1:p.Leu293=
ENST00000696628.1:c.877T=	ENSP00000512765.1:p.Leu293=
ENST00000369550.10:c.877T= MANE Select	ENSP00000358563.5:p.Leu293=
ENST00000369550.9:c.877T=	ENSP00000358563.5:p.Leu293=
ENST00000412124.5:c.174-1487T=
ENST00000413910.5:c.757T=	ENSP00000400542.1:p.Leu253=
ENST00000426673.5:c.237T=
ENST00000475966.1:n.366T=
ENST00000484317.5:n.515T=
ENST00000620277.4:c.877T=	ENSP00000478387.1:p.Leu293=
NM_001142463.2:c.877T=	NP_001135935.1:p.Leu293=
NM_001288747.1:c.877T=	NP_001275676.1:p.Leu293=
NM_001363.4:c.877T=	NP_001354.1:p.Leu293=
NR_110021.1:n.1578T=
NR_110022.1:n.1697T=
NR_110023.1:n.1471T=
NM_001363.5:c.877T= MANE Select	NP_001354.1:p.Leu293=
NM_001142463.3:c.877T=	NP_001135935.1:p.Leu293=
NR_110021.2:n.1456T=
NR_110022.2:n.1575T=
NR_110023.2:n.1349T=
NM_001288747.2:c.877T=	NP_001275676.1:p.Leu293=