Canonical Allele Identifier: CA2579743426

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773176del , CM000685.2:g.154773176del	GRCh38
NC_000023.10:g.154001451del , CM000685.1:g.154001451del	GRCh37
NC_000023.9:g.153654645del	NCBI36
NG_009780.1:g.15421del , LRG_55:g.15421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.962del	ENSP00000400542.2:p.Gly321ValfsTer2
ENST00000426673.6:c.*465del	ENSP00000407253.3:n.*465del
ENST00000484317.6:n.867del
ENST00000696575.1:c.1082del	ENSP00000512730.1:p.Gly361ValfsTer2
ENST00000696577.1:c.1082del	ENSP00000512731.1:p.Gly361ValfsTer2
ENST00000696578.1:c.*34del	ENSP00000512732.1:n.*34del
ENST00000696579.1:n.1184del
ENST00000696580.1:c.995del	ENSP00000512733.1:p.Gly332ValfsTer2
ENST00000696581.1:c.*1056del	ENSP00000512734.1:n.*1056del
ENST00000696582.1:c.*288del	ENSP00000512735.1:n.*288del
ENST00000696583.1:c.1043del	ENSP00000512736.1:p.Gly348ValfsTer2
ENST00000696584.1:n.1606del
ENST00000696585.1:n.1725del
ENST00000696586.1:n.1499del
ENST00000696587.1:c.962del	ENSP00000512737.1:p.Gly321ValfsTer2
ENST00000696588.1:c.473del	ENSP00000513251.1:p.Gly158ValfsTer2
ENST00000696589.1:n.857del
ENST00000696590.1:n.706del
ENST00000696591.1:n.431del
ENST00000696592.1:n.1961del
ENST00000696627.1:c.1082del	ENSP00000512764.1:p.Gly361ValfsTer2
ENST00000696628.1:c.1082del	ENSP00000512765.1:p.Gly361ValfsTer2
ENST00000369550.10:c.1082del MANE Select	ENSP00000358563.5:p.Gly361ValfsTer2
ENST00000369550.9:c.1082del	ENSP00000358563.5:p.Gly361ValfsTer2
ENST00000412124.5:c.340del
ENST00000426673.5:c.442del
ENST00000475966.1:n.571del
ENST00000481062.1:n.33del
ENST00000620277.4:c.1082del	ENSP00000478387.1:p.Gly361ValfsTer2
NM_001142463.2:c.1082del	NP_001135935.1:p.Gly361ValfsTer2
NM_001288747.1:c.1082del	NP_001275676.1:p.Gly361ValfsTer2
NM_001363.4:c.1082del	NP_001354.1:p.Gly361ValfsTer2
NR_110021.1:n.1783del
NR_110022.1:n.1902del
NR_110023.1:n.1676del
NM_001363.5:c.1082del MANE Select	NP_001354.1:p.Gly361ValfsTer2
NM_001142463.3:c.1082del	NP_001135935.1:p.Gly361ValfsTer2
NR_110021.2:n.1661del
NR_110022.2:n.1780del
NR_110023.2:n.1554del
NM_001288747.2:c.1082del	NP_001275676.1:p.Gly361ValfsTer2