Canonical Allele Identifier: CA2466787177

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773179T= , CM000685.2:g.154773179T=	GRCh38
NC_000023.10:g.154001454T= , CM000685.1:g.154001454T=	GRCh37
NC_000023.9:g.153654648T=	NCBI36
NG_009780.1:g.15424T= , LRG_55:g.15424T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.965T=	ENSP00000400542.2:p.Ile322=
ENST00000426673.6:c.*468T=	ENSP00000407253.3:n.*468T=
ENST00000484317.6:n.870T=
ENST00000696575.1:c.1085T=	ENSP00000512730.1:p.Ile362=
ENST00000696577.1:c.1085T=	ENSP00000512731.1:p.Ile362=
ENST00000696578.1:c.*37T=	ENSP00000512732.1:n.*37T=
ENST00000696579.1:n.1187T=
ENST00000696580.1:c.998T=	ENSP00000512733.1:p.Ile333=
ENST00000696581.1:c.*1059T=	ENSP00000512734.1:n.*1059T=
ENST00000696582.1:c.*291T=	ENSP00000512735.1:n.*291T=
ENST00000696583.1:c.1046T=	ENSP00000512736.1:p.Ile349=
ENST00000696584.1:n.1609T=
ENST00000696585.1:n.1728T=
ENST00000696586.1:n.1502T=
ENST00000696587.1:c.965T=	ENSP00000512737.1:p.Ile322=
ENST00000696588.1:c.476T=	ENSP00000513251.1:p.Ile159=
ENST00000696589.1:n.860T=
ENST00000696590.1:n.709T=
ENST00000696591.1:n.434T=
ENST00000696592.1:n.1964T=
ENST00000696627.1:c.1085T=	ENSP00000512764.1:p.Ile362=
ENST00000696628.1:c.1085T=	ENSP00000512765.1:p.Ile362=
ENST00000369550.10:c.1085T= MANE Select	ENSP00000358563.5:p.Ile362=
ENST00000369550.9:c.1085T=	ENSP00000358563.5:p.Ile362=
ENST00000412124.5:c.343T=
ENST00000426673.5:c.445T=
ENST00000475966.1:n.574T=
ENST00000481062.1:n.36T=
ENST00000620277.4:c.1085T=	ENSP00000478387.1:p.Ile362=
NM_001142463.2:c.1085T=	NP_001135935.1:p.Ile362=
NM_001288747.1:c.1085T=	NP_001275676.1:p.Ile362=
NM_001363.4:c.1085T=	NP_001354.1:p.Ile362=
NR_110021.1:n.1786T=
NR_110022.1:n.1905T=
NR_110023.1:n.1679T=
NM_001363.5:c.1085T= MANE Select	NP_001354.1:p.Ile362=
NM_001142463.3:c.1085T=	NP_001135935.1:p.Ile362=
NR_110021.2:n.1664T=
NR_110022.2:n.1783T=
NR_110023.2:n.1557T=
NM_001288747.2:c.1085T=	NP_001275676.1:p.Ile362=