Canonical Allele Identifier: CA2824310738

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773330_154773331insTTTTTTTTT , CM000685.2:g.154773330_154773331insTTTTTTTTT	GRCh38
NC_000023.10:g.154001605_154001606insTTTTTTTTT , CM000685.1:g.154001605_154001606insTTTTTTTTT	GRCh37
NC_000023.9:g.153654799_153654800insTTTTTTTTT	NCBI36
NG_009780.1:g.15575_15576insTTTTTTTTT , LRG_55:g.15575_15576insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+81_1035+82insTTTTTTTTT	ENSP00000400542.2:n.1035+81_1035+82insTTTTTTTTT
ENST00000426673.6:c.*538+81_*538+82insTTTTTTTTT	ENSP00000407253.3:n.*538+81_*538+82insTTTTTTTTT
ENST00000484317.6:n.940+81_940+82insTTTTTTTTT
ENST00000696575.1:c.1155+81_1155+82insTTTTTTTTT	ENSP00000512730.1:n.1155+81_1155+82insTTTTTTTTT
ENST00000696577.1:c.1155+81_1155+82insTTTTTTTTT	ENSP00000512731.1:n.1155+81_1155+82insTTTTTTTTT
ENST00000696578.1:c.*107+81_*107+82insTTTTTTTTT	ENSP00000512732.1:n.*107+81_*107+82insTTTTTTTTT
ENST00000696579.1:n.1257+81_1257+82insTTTTTTTTT
ENST00000696580.1:c.1068+81_1068+82insTTTTTTTTT	ENSP00000512733.1:n.1068+81_1068+82insTTTTTTTTT
ENST00000696581.1:c.*1129+81_*1129+82insTTTTTTTTT	ENSP00000512734.1:n.*1129+81_*1129+82insTTTTTTTTT
ENST00000696582.1:c.*361+81_*361+82insTTTTTTTTT	ENSP00000512735.1:n.*361+81_*361+82insTTTTTTTTT
ENST00000696583.1:c.1116+81_1116+82insTTTTTTTTT	ENSP00000512736.1:n.1116+81_1116+82insTTTTTTTTT
ENST00000696584.1:n.1679+81_1679+82insTTTTTTTTT
ENST00000696585.1:n.1798+81_1798+82insTTTTTTTTT
ENST00000696586.1:n.1572+81_1572+82insTTTTTTTTT
ENST00000696587.1:c.1035+81_1035+82insTTTTTTTTT	ENSP00000512737.1:n.1035+81_1035+82insTTTTTTTTT
ENST00000696588.1:c.546+81_546+82insTTTTTTTTT	ENSP00000513251.1:n.546+81_546+82insTTTTTTTTT
ENST00000696589.1:n.930+81_930+82insTTTTTTTTT
ENST00000696590.1:n.779+81_779+82insTTTTTTTTT
ENST00000696591.1:n.504+81_504+82insTTTTTTTTT
ENST00000696592.1:n.2034+81_2034+82insTTTTTTTTT
ENST00000696627.1:c.1159+77_1159+78insTTTTTTTTT	ENSP00000512764.1:n.1159+77_1159+78insTTTTTTTTT
ENST00000696628.1:c.1155+81_1155+82insTTTTTTTTT	ENSP00000512765.1:n.1155+81_1155+82insTTTTTTTTT
ENST00000369550.10:c.1155+81_1155+82insTTTTTTTTT MANE Select	ENSP00000358563.5:n.1155+81_1155+82insTTTTTTTTT
ENST00000369550.9:c.1155+81_1155+82insTTTTTTTTT	ENSP00000358563.5:n.1155+81_1155+82insTTTTTTTTT
ENST00000412124.5:c.413+81_413+82insTTTTTTTTT
ENST00000426673.5:c.515+81_515+82insTTTTTTTTT
ENST00000475966.1:n.644+81_644+82insTTTTTTTTT
ENST00000481062.1:n.106+81_106+82insTTTTTTTTT
ENST00000620277.4:c.1155+81_1155+82insTTTTTTTTT	ENSP00000478387.1:n.1155+81_1155+82insTTTTTTTTT
NM_001142463.2:c.1155+81_1155+82insTTTTTTTTT	NP_001135935.1:n.1155+81_1155+82insTTTTTTTTT
NM_001288747.1:c.1155+81_1155+82insTTTTTTTTT	NP_001275676.1:n.1155+81_1155+82insTTTTTTTTT
NM_001363.4:c.1155+81_1155+82insTTTTTTTTT	NP_001354.1:n.1155+81_1155+82insTTTTTTTTT
NR_110021.1:n.1856+81_1856+82insTTTTTTTTT
NR_110022.1:n.1975+81_1975+82insTTTTTTTTT
NR_110023.1:n.1749+81_1749+82insTTTTTTTTT
NM_001363.5:c.1155+81_1155+82insTTTTTTTTT MANE Select	NP_001354.1:n.1155+81_1155+82insTTTTTTTTT
NM_001142463.3:c.1155+81_1155+82insTTTTTTTTT	NP_001135935.1:n.1155+81_1155+82insTTTTTTTTT
NR_110021.2:n.1734+81_1734+82insTTTTTTTTT
NR_110022.2:n.1853+81_1853+82insTTTTTTTTT
NR_110023.2:n.1627+81_1627+82insTTTTTTTTT
NM_001288747.2:c.1155+81_1155+82insTTTTTTTTT	NP_001275676.1:n.1155+81_1155+82insTTTTTTTTT