Canonical Allele Identifier: CA10567313

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776907T>C , CM000685.2:g.154776907T>C	GRCh38
NC_000023.10:g.154005182T>C , CM000685.1:g.154005182T>C	GRCh37
NC_000023.9:g.153658376T>C	NCBI36
NG_009780.1:g.19152T>C , LRG_55:g.19152T>C
NG_015873.1:g.33621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*381T>C	ENSP00000400542.2:n.*381T>C
ENST00000426673.6:c.*1027T>C	ENSP00000407253.3:n.*1027T>C
ENST00000484317.6:n.1859T>C
ENST00000492372.2:n.523T>C
ENST00000696575.1:c.*40T>C	ENSP00000512730.1:n.*40T>C
ENST00000696577.1:c.*544T>C	ENSP00000512731.1:n.*544T>C
ENST00000696578.1:c.*537T>C	ENSP00000512732.1:n.*537T>C
ENST00000696579.1:n.2600T>C
ENST00000696580.1:c.*40T>C	ENSP00000512733.1:n.*40T>C
ENST00000696581.1:c.*1559T>C	ENSP00000512734.1:n.*1559T>C
ENST00000696582.1:c.*791T>C	ENSP00000512735.1:n.*791T>C
ENST00000696583.1:c.*40T>C	ENSP00000512736.1:n.*40T>C
ENST00000696584.1:n.2109T>C
ENST00000696585.1:n.2228T>C
ENST00000696586.1:n.2002T>C
ENST00000696587.1:c.*40T>C	ENSP00000512737.1:n.*40T>C
ENST00000696588.1:c.*40T>C	ENSP00000513251.1:n.*40T>C
ENST00000696589.1:n.1360T>C
ENST00000696590.1:n.2611T>C
ENST00000696591.1:n.934T>C
ENST00000696592.1:n.4340T>C
ENST00000696627.1:c.*411T>C	ENSP00000512764.1:n.*411T>C
ENST00000696628.1:c.*57T>C	ENSP00000512765.1:n.*57T>C
ENST00000369550.10:c.*40T>C MANE Select	ENSP00000358563.5:n.*40T>C
ENST00000369550.9:c.*40T>C	ENSP00000358563.5:n.*40T>C
ENST00000492372.1:n.402T>C
ENST00000620277.4:c.*811T>C	ENSP00000478387.1:n.*811T>C
NM_001142463.2:c.*40T>C	NP_001135935.1:n.*40T>C
NM_001288747.1:c.*811T>C	NP_001275676.1:n.*811T>C
NM_001363.4:c.*40T>C	NP_001354.1:n.*40T>C
NR_110021.1:n.2286T>C
NR_110022.1:n.2405T>C
NR_110023.1:n.2179T>C
NM_001363.5:c.*40T>C MANE Select	NP_001354.1:n.*40T>C
NM_001142463.3:c.*40T>C	NP_001135935.1:n.*40T>C
NR_110021.2:n.2164T>C
NR_110022.2:n.2283T>C
NR_110023.2:n.2057T>C
NM_001288747.2:c.*811T>C	NP_001275676.1:n.*811T>C