Canonical Allele Identifier: CA2466785799

Gene: DKC1

Linked Data

• dbSNP Id: rs2071789702
• gnomAD v4: X-154769109-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769109G>A , CM000685.2:g.154769109G>A	GRCh38
NC_000023.10:g.153997384G>A , CM000685.1:g.153997384G>A	GRCh37
NC_000023.9:g.153650578G>A	NCBI36
NG_009780.1:g.11354G>A , LRG_55:g.11354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.652-58G>A	ENSP00000400542.2:n.652-58G>A
ENST00000426673.6:c.*155-58G>A	ENSP00000407253.3:n.*155-58G>A
ENST00000484317.6:n.557-58G>A
ENST00000696575.1:c.772-58G>A	ENSP00000512730.1:n.772-58G>A
ENST00000696576.1:n.874-58G>A
ENST00000696577.1:c.772-58G>A	ENSP00000512731.1:n.772-58G>A
ENST00000696578.1:c.772-58G>A	ENSP00000512732.1:n.772-58G>A
ENST00000696579.1:n.874-58G>A
ENST00000696580.1:c.685-58G>A	ENSP00000512733.1:n.685-58G>A
ENST00000696581.1:c.*746-58G>A	ENSP00000512734.1:n.*746-58G>A
ENST00000696582.1:c.641-58G>A	ENSP00000512735.1:n.641-58G>A
ENST00000696583.1:c.772-97G>A	ENSP00000512736.1:n.772-97G>A
ENST00000696584.1:n.1296-58G>A
ENST00000696585.1:n.1415-58G>A
ENST00000696586.1:n.1189-58G>A
ENST00000696587.1:c.652-58G>A	ENSP00000512737.1:n.652-58G>A
ENST00000696588.1:c.163-58G>A	ENSP00000513251.1:n.163-58G>A
ENST00000696589.1:n.547-58G>A
ENST00000696590.1:n.396-58G>A
ENST00000696591.1:n.63G>A
ENST00000696627.1:c.772-58G>A	ENSP00000512764.1:n.772-58G>A
ENST00000696628.1:c.772-58G>A	ENSP00000512765.1:n.772-58G>A
ENST00000369550.10:c.772-58G>A MANE Select	ENSP00000358563.5:n.772-58G>A
ENST00000369550.9:c.772-58G>A	ENSP00000358563.5:n.772-58G>A
ENST00000412124.5:c.174-1650G>A
ENST00000413910.5:c.652-58G>A	ENSP00000400542.1:n.652-58G>A
ENST00000426673.5:c.132-58G>A
ENST00000452771.5:c.665-58G>A	ENSP00000407325.1:n.665-58G>A
ENST00000475966.1:n.261-58G>A
ENST00000484317.5:n.410-58G>A
ENST00000620277.4:c.772-58G>A	ENSP00000478387.1:n.772-58G>A
NM_001142463.2:c.772-58G>A	NP_001135935.1:n.772-58G>A
NM_001288747.1:c.772-58G>A	NP_001275676.1:n.772-58G>A
NM_001363.4:c.772-58G>A	NP_001354.1:n.772-58G>A
NR_110021.1:n.1473-58G>A
NR_110022.1:n.1592-58G>A
NR_110023.1:n.1366-58G>A
NM_001363.5:c.772-58G>A MANE Select	NP_001354.1:n.772-58G>A
NM_001142463.3:c.772-58G>A	NP_001135935.1:n.772-58G>A
NR_110021.2:n.1351-58G>A
NR_110022.2:n.1470-58G>A
NR_110023.2:n.1244-58G>A
NM_001288747.2:c.772-58G>A	NP_001275676.1:n.772-58G>A