Canonical Allele Identifier: CA519357440

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154771209dup , CM000685.2:g.154771209dup	GRCh38
NC_000023.10:g.153999484dup , CM000685.1:g.153999484dup	GRCh37
NC_000023.9:g.153652678dup	NCBI36
NG_009780.1:g.13454dup , LRG_55:g.13454dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.1036+330dup MANE Select	NP_001354.1:n.1036+330dup
ENST00000369550.10:c.1036+330dup MANE Select	ENSP00000358563.5:n.1036+330dup
NM_001142463.2:c.1036+330dup	NP_001135935.1:n.1036+330dup
NM_001142463.3:c.1036+330dup	NP_001135935.1:n.1036+330dup
NM_001288747.1:c.1036+330dup	NP_001275676.1:n.1036+330dup
NM_001288747.2:c.1036+330dup	NP_001275676.1:n.1036+330dup
NM_001363.4:c.1036+330dup	NP_001354.1:n.1036+330dup
NR_110021.1:n.1737+330dup
NR_110021.2:n.1615+330dup
NR_110022.1:n.1856+330dup
NR_110022.2:n.1734+330dup
NR_110023.1:n.1630+330dup
NR_110023.2:n.1508+330dup
ENST00000369550.9:c.1036+330dup	ENSP00000358563.5:n.1036+330dup
ENST00000412124.5:c.294+330dup
ENST00000413910.6:c.916+330dup	ENSP00000400542.2:n.916+330dup
ENST00000426673.5:c.396+330dup
ENST00000426673.6:c.*419+330dup	ENSP00000407253.3:n.*419+330dup
ENST00000475966.1:n.525+330dup
ENST00000484317.6:n.821+330dup
ENST00000620277.4:c.1036+330dup	ENSP00000478387.1:n.1036+330dup
ENST00000696575.1:c.1036+330dup	ENSP00000512730.1:n.1036+330dup
ENST00000696577.1:c.1036+330dup	ENSP00000512731.1:n.1036+330dup
ENST00000696578.1:c.915+1899dup	ENSP00000512732.1:n.915+1899dup
ENST00000696579.1:n.1138+330dup
ENST00000696580.1:c.949+330dup	ENSP00000512733.1:n.949+330dup
ENST00000696581.1:c.*1010+330dup	ENSP00000512734.1:n.*1010+330dup
ENST00000696582.1:c.*242+330dup	ENSP00000512735.1:n.*242+330dup
ENST00000696583.1:c.997+330dup	ENSP00000512736.1:n.997+330dup
ENST00000696584.1:n.1560+330dup
ENST00000696585.1:n.1679+330dup
ENST00000696586.1:n.1453+330dup
ENST00000696587.1:c.916+330dup	ENSP00000512737.1:n.916+330dup
ENST00000696588.1:c.427+330dup	ENSP00000513251.1:n.427+330dup
ENST00000696589.1:n.811+330dup
ENST00000696590.1:n.660+330dup
ENST00000696591.1:n.385+330dup
ENST00000696627.1:c.1036+330dup	ENSP00000512764.1:n.1036+330dup
ENST00000696628.1:c.1036+330dup	ENSP00000512765.1:n.1036+330dup