Canonical Allele Identifier: CA1138580606

Gene: DKC1

Linked Data

• gnomAD v3: X-154773284-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT
• gnomAD v4: X-154773284-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773306_154773307insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT , CM000685.2:g.154773306_154773307insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000023.10:g.154001581_154001582insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT , CM000685.1:g.154001581_154001582insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000023.9:g.153654775_153654776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009780.1:g.15551_15552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_55:g.15551_15552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+57_1035+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000400542.2:n.1035+57_1035+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000426673.6:c.*538+57_*538+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000407253.3:n.*538+57_*538+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000484317.6:n.940+57_940+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696575.1:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512730.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696577.1:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512731.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696578.1:c.*107+57_*107+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512732.1:n.*107+57_*107+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696579.1:n.1257+57_1257+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696580.1:c.1068+57_1068+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512733.1:n.1068+57_1068+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696581.1:c.*1129+57_*1129+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512734.1:n.*1129+57_*1129+58insTTTTTTTTTTTTTTTTTTTTT...
ENST00000696582.1:c.*361+57_*361+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512735.1:n.*361+57_*361+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696583.1:c.1116+57_1116+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512736.1:n.1116+57_1116+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696584.1:n.1679+57_1679+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696585.1:n.1798+57_1798+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696586.1:n.1572+57_1572+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696587.1:c.1035+57_1035+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512737.1:n.1035+57_1035+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696588.1:c.546+57_546+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000513251.1:n.546+57_546+58insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696589.1:n.930+57_930+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696590.1:n.779+57_779+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696591.1:n.504+57_504+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696592.1:n.2034+57_2034+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000696627.1:c.1159+53_1159+54insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512764.1:n.1159+53_1159+54insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000696628.1:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000512765.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369550.10:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000358563.5:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000369550.9:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358563.5:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000412124.5:c.413+57_413+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000426673.5:c.515+57_515+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000475966.1:n.644+57_644+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000481062.1:n.106+57_106+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000620277.4:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000478387.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001142463.2:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001135935.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001288747.1:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001275676.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001363.4:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001354.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_110021.1:n.1856+57_1856+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NR_110022.1:n.1975+57_1975+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NR_110023.1:n.1749+57_1749+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001363.5:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001354.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001142463.3:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001135935.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_110021.2:n.1734+57_1734+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NR_110022.2:n.1853+57_1853+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NR_110023.2:n.1627+57_1627+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001288747.2:c.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001275676.1:n.1155+57_1155+58insTTTTTTTTTTTTTTTTTTTTTTTTTT...