Canonical Allele Identifier: CA10567272

Gene: DKC1

Linked Data

• ClinVar Variation Id: 569599
• ClinVar RCV Id: RCV000690270
• dbSNP Id: rs781922569
• ExAC: X:154004530 AAAG / A
• gnomAD v2: X-154004530-AAAG-A
• gnomAD v3: X-154776255-AAAG-A
• gnomAD v4: X-154776255-AAAG-A
• MyVariant Identifiers: chrX:g.154004538_154004540del (hg19) ; chrX:g.154004531_154004533del (hg19) ; chrX:g.154776263_154776265del (hg38) ; chrX:g.154776256_154776258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776263_154776265del , CM000685.2:g.154776263_154776265del	GRCh38
NC_000023.10:g.154004538_154004540del , CM000685.1:g.154004538_154004540del	GRCh37
NC_000023.9:g.153657732_153657734del	NCBI36
NG_009780.1:g.18508_18510del , LRG_55:g.18508_18510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*211_*213del	ENSP00000400542.2:n.*211_*213del
ENST00000426673.6:c.*857_*859del	ENSP00000407253.3:n.*857_*859del
ENST00000484317.6:n.1689_1691del
ENST00000492372.2:n.353_355del
ENST00000696575.1:c.1400_1402del	ENSP00000512730.1:p.Lys467del
ENST00000696577.1:c.1415_1417del	ENSP00000512731.1:p.Lys472del
ENST00000696578.1:c.*367_*369del	ENSP00000512732.1:n.*367_*369del
ENST00000696579.1:n.2430_2432del
ENST00000696580.1:c.1328_1330del	ENSP00000512733.1:p.Lys443del
ENST00000696581.1:c.*1389_*1391del	ENSP00000512734.1:n.*1389_*1391del
ENST00000696582.1:c.*621_*623del	ENSP00000512735.1:n.*621_*623del
ENST00000696583.1:c.1376_1378del	ENSP00000512736.1:p.Lys459del
ENST00000696584.1:n.1939_1941del
ENST00000696585.1:n.2058_2060del
ENST00000696586.1:n.1832_1834del
ENST00000696587.1:c.1295_1297del	ENSP00000512737.1:p.Lys432del
ENST00000696588.1:c.806_808del	ENSP00000513251.1:p.Lys269del
ENST00000696589.1:n.1190_1192del
ENST00000696590.1:n.2441_2443del
ENST00000696591.1:n.764_766del
ENST00000696592.1:n.3696_3698del
ENST00000696627.1:c.*241_*243del	ENSP00000512764.1:n.*241_*243del
ENST00000696628.1:c.1415_1417del	ENSP00000512765.1:p.Lys472del
ENST00000369550.10:c.1415_1417del MANE Select	ENSP00000358563.5:p.Lys472del
ENST00000369550.9:c.1415_1417del	ENSP00000358563.5:p.Lys472del
ENST00000426673.5:c.834_836del
ENST00000492372.1:n.232_234del
ENST00000620277.4:c.*641_*643del	ENSP00000478387.1:n.*641_*643del
NM_001142463.2:c.1400_1402del	NP_001135935.1:p.Lys467del
NM_001288747.1:c.*641_*643del	NP_001275676.1:n.*641_*643del
NM_001363.4:c.1415_1417del	NP_001354.1:p.Lys472del
NR_110021.1:n.2116_2118del
NR_110022.1:n.2235_2237del
NR_110023.1:n.2009_2011del
NM_001363.5:c.1415_1417del MANE Select	NP_001354.1:p.Lys472del
NM_001142463.3:c.1400_1402del	NP_001135935.1:p.Lys467del
NR_110021.2:n.1994_1996del
NR_110022.2:n.2113_2115del
NR_110023.2:n.1887_1889del
NM_001288747.2:c.*641_*643del	NP_001275676.1:n.*641_*643del