Canonical Allele Identifier: CA414896268

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001526T>G (hg19) ; chrX:g.154773251T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773251T>G , CM000685.2:g.154773251T>G	GRCh38
NC_000023.10:g.154001526T>G , CM000685.1:g.154001526T>G	GRCh37
NC_000023.9:g.153654720T>G	NCBI36
NG_009780.1:g.15496T>G , LRG_55:g.15496T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1035+2T>G	ENSP00000400542.2:n.1035+2T>G
ENST00000426673.6:c.*538+2T>G	ENSP00000407253.3:n.*538+2T>G
ENST00000484317.6:n.940+2T>G
ENST00000696575.1:c.1155+2T>G	ENSP00000512730.1:n.1155+2T>G
ENST00000696577.1:c.1155+2T>G	ENSP00000512731.1:n.1155+2T>G
ENST00000696578.1:c.*107+2T>G	ENSP00000512732.1:n.*107+2T>G
ENST00000696579.1:n.1257+2T>G
ENST00000696580.1:c.1068+2T>G	ENSP00000512733.1:n.1068+2T>G
ENST00000696581.1:c.*1129+2T>G	ENSP00000512734.1:n.*1129+2T>G
ENST00000696582.1:c.*361+2T>G	ENSP00000512735.1:n.*361+2T>G
ENST00000696583.1:c.1116+2T>G	ENSP00000512736.1:n.1116+2T>G
ENST00000696584.1:n.1679+2T>G
ENST00000696585.1:n.1798+2T>G
ENST00000696586.1:n.1572+2T>G
ENST00000696587.1:c.1035+2T>G	ENSP00000512737.1:n.1035+2T>G
ENST00000696588.1:c.546+2T>G	ENSP00000513251.1:n.546+2T>G
ENST00000696589.1:n.930+2T>G
ENST00000696590.1:n.779+2T>G
ENST00000696591.1:n.504+2T>G
ENST00000696592.1:n.2034+2T>G
ENST00000696627.1:c.1157T>G	ENSP00000512764.1:p.Val386Gly
ENST00000696628.1:c.1155+2T>G	ENSP00000512765.1:n.1155+2T>G
ENST00000369550.10:c.1155+2T>G MANE Select	ENSP00000358563.5:n.1155+2T>G
ENST00000369550.9:c.1155+2T>G	ENSP00000358563.5:n.1155+2T>G
ENST00000412124.5:c.413+2T>G
ENST00000426673.5:c.515+2T>G
ENST00000475966.1:n.644+2T>G
ENST00000481062.1:n.106+2T>G
ENST00000620277.4:c.1155+2T>G	ENSP00000478387.1:n.1155+2T>G
NM_001142463.2:c.1155+2T>G	NP_001135935.1:n.1155+2T>G
NM_001288747.1:c.1155+2T>G	NP_001275676.1:n.1155+2T>G
NM_001363.4:c.1155+2T>G	NP_001354.1:n.1155+2T>G
NR_110021.1:n.1856+2T>G
NR_110022.1:n.1975+2T>G
NR_110023.1:n.1749+2T>G
NM_001363.5:c.1155+2T>G MANE Select	NP_001354.1:n.1155+2T>G
NM_001142463.3:c.1155+2T>G	NP_001135935.1:n.1155+2T>G
NR_110021.2:n.1734+2T>G
NR_110022.2:n.1853+2T>G
NR_110023.2:n.1627+2T>G
NM_001288747.2:c.1155+2T>G	NP_001275676.1:n.1155+2T>G