Canonical Allele Identifier: CA2466787767

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774650G= , CM000685.2:g.154774650G=	GRCh38
NC_000023.10:g.154002925G= , CM000685.1:g.154002925G=	GRCh37
NC_000023.9:g.153656119G=	NCBI36
NG_009780.1:g.16895G= , LRG_55:g.16895G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1084G=	ENSP00000400542.2:p.Gly362=
ENST00000426673.6:c.*587G=	ENSP00000407253.3:n.*587G=
ENST00000484317.6:n.989G=
ENST00000696575.1:c.1204G=	ENSP00000512730.1:p.Gly402=
ENST00000696577.1:c.1204G=	ENSP00000512731.1:p.Gly402=
ENST00000696578.1:c.*156G=	ENSP00000512732.1:n.*156G=
ENST00000696579.1:n.1306G=
ENST00000696580.1:c.1117G=	ENSP00000512733.1:p.Gly373=
ENST00000696581.1:c.*1178G=	ENSP00000512734.1:n.*1178G=
ENST00000696582.1:c.*410G=	ENSP00000512735.1:n.*410G=
ENST00000696583.1:c.1165G=	ENSP00000512736.1:p.Gly389=
ENST00000696584.1:n.1728G=
ENST00000696585.1:n.1847G=
ENST00000696586.1:n.1621G=
ENST00000696587.1:c.1084G=	ENSP00000512737.1:p.Gly362=
ENST00000696588.1:c.595G=	ENSP00000513251.1:p.Gly199=
ENST00000696589.1:n.979G=
ENST00000696590.1:n.828G=
ENST00000696591.1:n.553G=
ENST00000696592.1:n.2083G=
ENST00000696627.1:c.*30G=	ENSP00000512764.1:n.*30G=
ENST00000696628.1:c.1204G=	ENSP00000512765.1:p.Gly402=
ENST00000369550.10:c.1204G= MANE Select	ENSP00000358563.5:p.Gly402=
ENST00000369550.9:c.1204G=	ENSP00000358563.5:p.Gly402=
ENST00000412124.5:c.462G=
ENST00000426673.5:c.564G=
ENST00000475966.1:n.693G=
ENST00000481062.1:n.155G=
ENST00000620277.4:c.1204G=	ENSP00000478387.1:p.Gly402=
NM_001142463.2:c.1204G=	NP_001135935.1:p.Gly402=
NM_001288747.1:c.1204G=	NP_001275676.1:p.Gly402=
NM_001363.4:c.1204G=	NP_001354.1:p.Gly402=
NR_110021.1:n.1905G=
NR_110022.1:n.2024G=
NR_110023.1:n.1798G=
NM_001363.5:c.1204G= MANE Select	NP_001354.1:p.Gly402=
NM_001142463.3:c.1204G=	NP_001135935.1:p.Gly402=
NR_110021.2:n.1783G=
NR_110022.2:n.1902G=
NR_110023.2:n.1676G=
NM_001288747.2:c.1204G=	NP_001275676.1:p.Gly402=