Canonical Allele Identifier: CA2466787774

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774672C= , CM000685.2:g.154774672C=	GRCh38
NC_000023.10:g.154002947C= , CM000685.1:g.154002947C=	GRCh37
NC_000023.9:g.153656141C=	NCBI36
NG_009780.1:g.16917C= , LRG_55:g.16917C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1106C=	ENSP00000400542.2:p.Pro369=
ENST00000426673.6:c.*609C=	ENSP00000407253.3:n.*609C=
ENST00000484317.6:n.1011C=
ENST00000696575.1:c.1226C=	ENSP00000512730.1:p.Pro409=
ENST00000696577.1:c.1226C=	ENSP00000512731.1:p.Pro409=
ENST00000696578.1:c.*178C=	ENSP00000512732.1:n.*178C=
ENST00000696579.1:n.1328C=
ENST00000696580.1:c.1139C=	ENSP00000512733.1:p.Pro380=
ENST00000696581.1:c.*1200C=	ENSP00000512734.1:n.*1200C=
ENST00000696582.1:c.*432C=	ENSP00000512735.1:n.*432C=
ENST00000696583.1:c.1187C=	ENSP00000512736.1:p.Pro396=
ENST00000696584.1:n.1750C=
ENST00000696585.1:n.1869C=
ENST00000696586.1:n.1643C=
ENST00000696587.1:c.1106C=	ENSP00000512737.1:p.Pro369=
ENST00000696588.1:c.617C=	ENSP00000513251.1:p.Pro206=
ENST00000696589.1:n.1001C=
ENST00000696590.1:n.850C=
ENST00000696591.1:n.575C=
ENST00000696592.1:n.2105C=
ENST00000696627.1:c.*52C=	ENSP00000512764.1:n.*52C=
ENST00000696628.1:c.1226C=	ENSP00000512765.1:p.Pro409=
ENST00000369550.10:c.1226C= MANE Select	ENSP00000358563.5:p.Pro409=
ENST00000369550.9:c.1226C=	ENSP00000358563.5:p.Pro409=
ENST00000412124.5:c.484C=
ENST00000426673.5:c.586C=
ENST00000475966.1:n.715C=
ENST00000481062.1:n.177C=
ENST00000620277.4:c.1226C=	ENSP00000478387.1:p.Pro409=
NM_001142463.2:c.1226C=	NP_001135935.1:p.Pro409=
NM_001288747.1:c.1226C=	NP_001275676.1:p.Pro409=
NM_001363.4:c.1226C=	NP_001354.1:p.Pro409=
NR_110021.1:n.1927C=
NR_110022.1:n.2046C=
NR_110023.1:n.1820C=
NM_001363.5:c.1226C= MANE Select	NP_001354.1:p.Pro409=
NM_001142463.3:c.1226C=	NP_001135935.1:p.Pro409=
NR_110021.2:n.1805C=
NR_110022.2:n.1924C=
NR_110023.2:n.1698C=
NM_001288747.2:c.1226C=	NP_001275676.1:p.Pro409=