Canonical Allele Identifier: CA414890763

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154768409C>T , CM000685.2:g.154768409C>T	GRCh38
NC_000023.10:g.153996684C>T , CM000685.1:g.153996684C>T	GRCh37
NC_000023.9:g.153649878C>T	NCBI36
NG_009780.1:g.10654C>T , LRG_55:g.10654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.651+97C>T	ENSP00000400542.2:n.651+97C>T
ENST00000426673.6:c.*131C>T	ENSP00000407253.3:n.*131C>T
ENST00000484317.6:n.533C>T
ENST00000696575.1:c.748C>T	ENSP00000512730.1:p.Arg250Cys
ENST00000696576.1:n.850C>T
ENST00000696577.1:c.748C>T	ENSP00000512731.1:p.Arg250Cys
ENST00000696578.1:c.748C>T	ENSP00000512732.1:p.Arg250Cys
ENST00000696579.1:n.850C>T
ENST00000696580.1:c.661C>T	ENSP00000512733.1:p.Arg221Cys
ENST00000696581.1:c.*722C>T	ENSP00000512734.1:n.*722C>T
ENST00000696582.1:c.641-758C>T	ENSP00000512735.1:n.641-758C>T
ENST00000696583.1:c.748C>T	ENSP00000512736.1:p.Arg250Cys
ENST00000696584.1:n.1272C>T
ENST00000696585.1:n.1391C>T
ENST00000696586.1:n.795C>T
ENST00000696587.1:c.628C>T	ENSP00000512737.1:p.Arg210Cys
ENST00000696588.1:c.139C>T	ENSP00000513251.1:p.Arg47Cys
ENST00000696589.1:n.523C>T
ENST00000696590.1:n.372C>T
ENST00000696627.1:c.748C>T	ENSP00000512764.1:p.Arg250Cys
ENST00000696628.1:c.748C>T	ENSP00000512765.1:p.Arg250Cys
ENST00000369550.10:c.748C>T MANE Select	ENSP00000358563.5:p.Arg250Cys
ENST00000369550.9:c.748C>T	ENSP00000358563.5:p.Arg250Cys
ENST00000412124.5:c.173+1027C>T
ENST00000413910.5:c.651+97C>T	ENSP00000400542.1:n.651+97C>T
ENST00000426673.5:c.108C>T
ENST00000452771.5:c.641C>T	ENSP00000407325.1:n.641C>T
ENST00000484317.5:n.386C>T
ENST00000620277.4:c.748C>T	ENSP00000478387.1:p.Arg250Cys
NM_001142463.2:c.748C>T	NP_001135935.1:p.Arg250Cys
NM_001288747.1:c.748C>T	NP_001275676.1:p.Arg250Cys
NM_001363.4:c.748C>T	NP_001354.1:p.Arg250Cys
NR_110021.1:n.1449C>T
NR_110022.1:n.1568C>T
NR_110023.1:n.972C>T
NM_001363.5:c.748C>T MANE Select	NP_001354.1:p.Arg250Cys
NM_001142463.3:c.748C>T	NP_001135935.1:p.Arg250Cys
NR_110021.2:n.1327C>T
NR_110022.2:n.1446C>T
NR_110023.2:n.850C>T
NM_001288747.2:c.748C>T	NP_001275676.1:p.Arg250Cys