Canonical Allele Identifier: CA519356181

Gene: DKC1

Linked Data

• ClinVar Variation Id: 2780260
• ClinVar RCV Id: RCV003645997
• dbSNP Id: rs2071791937
• gnomAD v4: X-154769292-G-A
• MyVariant Identifiers: chrX:g.153997567G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769292G>A , CM000685.2:g.154769292G>A	GRCh38
NC_000023.10:g.153997567G>A , CM000685.1:g.153997567G>A	GRCh37
NC_000023.9:g.153650761G>A	NCBI36
NG_009780.1:g.11537G>A , LRG_55:g.11537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.777G>A	ENSP00000400542.2:p.Leu259=
ENST00000426673.6:c.*280G>A	ENSP00000407253.3:n.*280G>A
ENST00000484317.6:n.682G>A
ENST00000696575.1:c.897G>A	ENSP00000512730.1:p.Leu299=
ENST00000696576.1:n.999G>A
ENST00000696577.1:c.897G>A	ENSP00000512731.1:p.Leu299=
ENST00000696578.1:c.897G>A	ENSP00000512732.1:p.Leu299=
ENST00000696579.1:n.999G>A
ENST00000696580.1:c.810G>A	ENSP00000512733.1:p.Leu270=
ENST00000696581.1:c.*871G>A	ENSP00000512734.1:n.*871G>A
ENST00000696582.1:c.*103G>A	ENSP00000512735.1:n.*103G>A
ENST00000696583.1:c.858G>A	ENSP00000512736.1:p.Leu286=
ENST00000696584.1:n.1421G>A
ENST00000696585.1:n.1540G>A
ENST00000696586.1:n.1314G>A
ENST00000696587.1:c.777G>A	ENSP00000512737.1:p.Leu259=
ENST00000696588.1:c.288G>A	ENSP00000513251.1:p.Leu96=
ENST00000696589.1:n.672G>A
ENST00000696590.1:n.521G>A
ENST00000696591.1:n.246G>A
ENST00000696627.1:c.897G>A	ENSP00000512764.1:p.Leu299=
ENST00000696628.1:c.897G>A	ENSP00000512765.1:p.Leu299=
ENST00000369550.10:c.897G>A MANE Select	ENSP00000358563.5:p.Leu299=
ENST00000369550.9:c.897G>A	ENSP00000358563.5:p.Leu299=
ENST00000412124.5:c.174-1467G>A
ENST00000426673.5:c.257G>A
ENST00000475966.1:n.386G>A
ENST00000484317.5:n.535G>A
ENST00000620277.4:c.897G>A	ENSP00000478387.1:p.Leu299=
NM_001142463.2:c.897G>A	NP_001135935.1:p.Leu299=
NM_001288747.1:c.897G>A	NP_001275676.1:p.Leu299=
NM_001363.4:c.897G>A	NP_001354.1:p.Leu299=
NR_110021.1:n.1598G>A
NR_110022.1:n.1717G>A
NR_110023.1:n.1491G>A
NM_001363.5:c.897G>A MANE Select	NP_001354.1:p.Leu299=
NM_001142463.3:c.897G>A	NP_001135935.1:p.Leu299=
NR_110021.2:n.1476G>A
NR_110022.2:n.1595G>A
NR_110023.2:n.1369G>A
NM_001288747.2:c.897G>A	NP_001275676.1:p.Leu299=