Canonical Allele Identifier: CA2466787175

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773169G= , CM000685.2:g.154773169G=	GRCh38
NC_000023.10:g.154001444G= , CM000685.1:g.154001444G=	GRCh37
NC_000023.9:g.153654638G=	NCBI36
NG_009780.1:g.15414G= , LRG_55:g.15414G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.955G=	ENSP00000400542.2:p.Asp319=
ENST00000426673.6:c.*458G=	ENSP00000407253.3:n.*458G=
ENST00000484317.6:n.860G=
ENST00000696575.1:c.1075G=	ENSP00000512730.1:p.Asp359=
ENST00000696577.1:c.1075G=	ENSP00000512731.1:p.Asp359=
ENST00000696578.1:c.*27G=	ENSP00000512732.1:n.*27G=
ENST00000696579.1:n.1177G=
ENST00000696580.1:c.988G=	ENSP00000512733.1:p.Asp330=
ENST00000696581.1:c.*1049G=	ENSP00000512734.1:n.*1049G=
ENST00000696582.1:c.*281G=	ENSP00000512735.1:n.*281G=
ENST00000696583.1:c.1036G=	ENSP00000512736.1:p.Asp346=
ENST00000696584.1:n.1599G=
ENST00000696585.1:n.1718G=
ENST00000696586.1:n.1492G=
ENST00000696587.1:c.955G=	ENSP00000512737.1:p.Asp319=
ENST00000696588.1:c.466G=	ENSP00000513251.1:p.Asp156=
ENST00000696589.1:n.850G=
ENST00000696590.1:n.699G=
ENST00000696591.1:n.424G=
ENST00000696592.1:n.1954G=
ENST00000696627.1:c.1075G=	ENSP00000512764.1:p.Asp359=
ENST00000696628.1:c.1075G=	ENSP00000512765.1:p.Asp359=
ENST00000369550.10:c.1075G= MANE Select	ENSP00000358563.5:p.Asp359=
ENST00000369550.9:c.1075G=	ENSP00000358563.5:p.Asp359=
ENST00000412124.5:c.333G=
ENST00000426673.5:c.435G=
ENST00000475966.1:n.564G=
ENST00000481062.1:n.26G=
ENST00000620277.4:c.1075G=	ENSP00000478387.1:p.Asp359=
NM_001142463.2:c.1075G=	NP_001135935.1:p.Asp359=
NM_001288747.1:c.1075G=	NP_001275676.1:p.Asp359=
NM_001363.4:c.1075G=	NP_001354.1:p.Asp359=
NR_110021.1:n.1776G=
NR_110022.1:n.1895G=
NR_110023.1:n.1669G=
NM_001363.5:c.1075G= MANE Select	NP_001354.1:p.Asp359=
NM_001142463.3:c.1075G=	NP_001135935.1:p.Asp359=
NR_110021.2:n.1654G=
NR_110022.2:n.1773G=
NR_110023.2:n.1547G=
NM_001288747.2:c.1075G=	NP_001275676.1:p.Asp359=