Canonical Allele Identifier: CA337314561

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776964A>G , CM000685.2:g.154776964A>G	GRCh38
NC_000023.10:g.154005239A>G , CM000685.1:g.154005239A>G	GRCh37
NC_000023.9:g.153658433A>G	NCBI36
NG_009780.1:g.19209A>G , LRG_55:g.19209A>G
NG_015873.1:g.33564T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.*97A>G MANE Select	NP_001354.1:n.*97A>G
ENST00000369550.10:c.*97A>G MANE Select	ENSP00000358563.5:n.*97A>G
NM_001142463.2:c.*97A>G	NP_001135935.1:n.*97A>G
NM_001142463.3:c.*97A>G	NP_001135935.1:n.*97A>G
NM_001288747.1:c.*868A>G	NP_001275676.1:n.*868A>G
NM_001288747.2:c.*868A>G	NP_001275676.1:n.*868A>G
NM_001363.4:c.*97A>G	NP_001354.1:n.*97A>G
NR_110021.1:n.2343A>G
NR_110021.2:n.2221A>G
NR_110022.1:n.2462A>G
NR_110022.2:n.2340A>G
NR_110023.1:n.2236A>G
NR_110023.2:n.2114A>G
ENST00000369550.9:c.*97A>G	ENSP00000358563.5:n.*97A>G
ENST00000413910.6:c.*438A>G	ENSP00000400542.2:n.*438A>G
ENST00000426673.6:c.*1084A>G	ENSP00000407253.3:n.*1084A>G
ENST00000484317.6:n.1916A>G
ENST00000492372.2:n.580A>G
ENST00000620277.4:c.*868A>G	ENSP00000478387.1:n.*868A>G
ENST00000696575.1:c.*97A>G	ENSP00000512730.1:n.*97A>G
ENST00000696577.1:c.*601A>G	ENSP00000512731.1:n.*601A>G
ENST00000696578.1:c.*594A>G	ENSP00000512732.1:n.*594A>G
ENST00000696579.1:n.2657A>G
ENST00000696580.1:c.*97A>G	ENSP00000512733.1:n.*97A>G
ENST00000696581.1:c.*1616A>G	ENSP00000512734.1:n.*1616A>G
ENST00000696582.1:c.*848A>G	ENSP00000512735.1:n.*848A>G
ENST00000696583.1:c.*97A>G	ENSP00000512736.1:n.*97A>G
ENST00000696584.1:n.2166A>G
ENST00000696585.1:n.2285A>G
ENST00000696586.1:n.2059A>G
ENST00000696587.1:c.*97A>G	ENSP00000512737.1:n.*97A>G
ENST00000696588.1:c.*97A>G	ENSP00000513251.1:n.*97A>G
ENST00000696589.1:n.1417A>G
ENST00000696590.1:n.2668A>G
ENST00000696591.1:n.991A>G
ENST00000696592.1:n.4397A>G
ENST00000696627.1:c.*468A>G	ENSP00000512764.1:n.*468A>G
ENST00000696628.1:c.*114A>G	ENSP00000512765.1:n.*114A>G