Canonical Allele Identifier: CA337306277

Gene: DKC1

Linked Data

• dbSNP Id: rs781796020
• gnomAD v3: X-154765230-C-CT
• gnomAD v4: X-154765230-C-CT
• MyVariant Identifiers: chrX:g.153993505_153993506insT (hg19) ; chrX:g.154765230_154765231insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765233dup , CM000685.2:g.154765233dup	GRCh38
NC_000023.10:g.153993508dup , CM000685.1:g.153993508dup	GRCh37
NC_000023.9:g.153646702dup	NCBI36
NG_009780.1:g.7478dup , LRG_55:g.7478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.85-211dup	ENSP00000400542.2:n.85-211dup
ENST00000426673.6:c.85-211dup	ENSP00000407253.3:n.85-211dup
ENST00000696575.1:c.85-211dup	ENSP00000512730.1:n.85-211dup
ENST00000696576.1:n.187-211dup
ENST00000696577.1:c.85-211dup	ENSP00000512731.1:n.85-211dup
ENST00000696578.1:c.85-211dup	ENSP00000512732.1:n.85-211dup
ENST00000696579.1:n.187-211dup
ENST00000696580.1:c.84+267dup	ENSP00000512733.1:n.84+267dup
ENST00000696581.1:c.85-87dup	ENSP00000512734.1:n.85-87dup
ENST00000696582.1:c.85-211dup	ENSP00000512735.1:n.85-211dup
ENST00000696583.1:c.85-211dup	ENSP00000512736.1:n.85-211dup
ENST00000696584.1:n.398dup
ENST00000696585.1:n.132-211dup
ENST00000696586.1:n.132-211dup
ENST00000696587.1:c.85-211dup	ENSP00000512737.1:n.85-211dup
ENST00000696588.1:c.-736dup	ENSP00000513251.1:n.-736dup
ENST00000696627.1:c.85-211dup	ENSP00000512764.1:n.85-211dup
ENST00000696628.1:c.85-211dup	ENSP00000512765.1:n.85-211dup
ENST00000369550.10:c.85-211dup MANE Select	ENSP00000358563.5:n.85-211dup
ENST00000369550.9:c.85-211dup	ENSP00000358563.5:n.85-211dup
ENST00000413910.5:c.85-211dup	ENSP00000400542.1:n.85-211dup
ENST00000437719.5:c.41-211dup
ENST00000452771.5:c.43-211dup	ENSP00000407325.1:n.43-211dup
ENST00000473552.1:n.138-211dup
ENST00000475423.1:n.465dup
ENST00000620277.4:c.85-211dup	ENSP00000478387.1:n.85-211dup
NM_001142463.2:c.85-211dup	NP_001135935.1:n.85-211dup
NM_001288747.1:c.85-211dup	NP_001275676.1:n.85-211dup
NM_001363.4:c.85-211dup	NP_001354.1:n.85-211dup
NR_110021.1:n.575dup
NR_110022.1:n.309-211dup
NR_110023.1:n.309-211dup
NM_001363.5:c.85-211dup MANE Select	NP_001354.1:n.85-211dup
NM_001142463.3:c.85-211dup	NP_001135935.1:n.85-211dup
NR_110021.2:n.453dup
NR_110022.2:n.187-211dup
NR_110023.2:n.187-211dup
NM_001288747.2:c.85-211dup	NP_001275676.1:n.85-211dup