Canonical Allele Identifier: CA2579743425

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773147del , CM000685.2:g.154773147del	GRCh38
NC_000023.10:g.154001422del , CM000685.1:g.154001422del	GRCh37
NC_000023.9:g.153654616del	NCBI36
NG_009780.1:g.15392del , LRG_55:g.15392del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.933del	ENSP00000400542.2:p.Thr312GlnfsTer11
ENST00000426673.6:c.*436del	ENSP00000407253.3:n.*436del
ENST00000484317.6:n.838del
ENST00000696575.1:c.1053del	ENSP00000512730.1:p.Thr352GlnfsTer11
ENST00000696577.1:c.1053del	ENSP00000512731.1:p.Thr352GlnfsTer11
ENST00000696578.1:c.*5del	ENSP00000512732.1:n.*5del
ENST00000696579.1:n.1155del
ENST00000696580.1:c.966del	ENSP00000512733.1:p.Thr323GlnfsTer11
ENST00000696581.1:c.*1027del	ENSP00000512734.1:n.*1027del
ENST00000696582.1:c.*259del	ENSP00000512735.1:n.*259del
ENST00000696583.1:c.1014del	ENSP00000512736.1:p.Thr339GlnfsTer11
ENST00000696584.1:n.1577del
ENST00000696585.1:n.1696del
ENST00000696586.1:n.1470del
ENST00000696587.1:c.933del	ENSP00000512737.1:p.Thr312GlnfsTer11
ENST00000696588.1:c.444del	ENSP00000513251.1:p.Thr149GlnfsTer11
ENST00000696589.1:n.828del
ENST00000696590.1:n.677del
ENST00000696591.1:n.402del
ENST00000696592.1:n.1932del
ENST00000696627.1:c.1053del	ENSP00000512764.1:p.Thr352GlnfsTer11
ENST00000696628.1:c.1053del	ENSP00000512765.1:p.Thr352GlnfsTer11
ENST00000369550.10:c.1053del MANE Select	ENSP00000358563.5:p.Thr352GlnfsTer11
ENST00000369550.9:c.1053del	ENSP00000358563.5:p.Thr352GlnfsTer11
ENST00000412124.5:c.311del
ENST00000426673.5:c.413del
ENST00000475966.1:n.542del
ENST00000481062.1:n.4del
ENST00000620277.4:c.1053del	ENSP00000478387.1:p.Thr352GlnfsTer11
NM_001142463.2:c.1053del	NP_001135935.1:p.Thr352GlnfsTer11
NM_001288747.1:c.1053del	NP_001275676.1:p.Thr352GlnfsTer11
NM_001363.4:c.1053del	NP_001354.1:p.Thr352GlnfsTer11
NR_110021.1:n.1754del
NR_110022.1:n.1873del
NR_110023.1:n.1647del
NM_001363.5:c.1053del MANE Select	NP_001354.1:p.Thr352GlnfsTer11
NM_001142463.3:c.1053del	NP_001135935.1:p.Thr352GlnfsTer11
NR_110021.2:n.1632del
NR_110022.2:n.1751del
NR_110023.2:n.1525del
NM_001288747.2:c.1053del	NP_001275676.1:p.Thr352GlnfsTer11