Canonical Allele Identifier: CA341109
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11583
ClinVar RCV Id: RCV000012339 RCV000634495
dbSNP Id: rs137854489
MyVariant Identifiers: chrX:g.153993743_153993745del (hg19) chrX:g.154765468_154765470del (hg38)
PubMed: PMID:9590285 PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765468_154765470del , CM000685.2:g.154765468_154765470del GRCh38
NC_000023.10:g.153993743_153993745del , CM000685.1:g.153993743_153993745del GRCh37
NC_000023.9:g.153646937_153646939del NCBI36
NG_009780.1:g.7713_7715del , LRG_55:g.7713_7715del

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.109_111del ENSP00000400542.2:p.Leu37del
ENST00000426673.6:c.109_111del ENSP00000407253.3:p.Leu37del
ENST00000696575.1:c.109_111del ENSP00000512730.1:p.Leu37del
ENST00000696576.1:n.211_213del
ENST00000696577.1:c.109_111del ENSP00000512731.1:p.Leu37del
ENST00000696578.1:c.109_111del ENSP00000512732.1:p.Leu37del
ENST00000696579.1:n.211_213del
ENST00000696580.1:c.85-439_85-437del ENSP00000512733.1:n.85-439_85-437del
ENST00000696581.1:c.*83_*85del ENSP00000512734.1:n.*83_*85del
ENST00000696582.1:c.109_111del ENSP00000512735.1:p.Leu37del
ENST00000696583.1:c.109_111del ENSP00000512736.1:p.Leu37del
ENST00000696584.1:n.633_635del
ENST00000696585.1:n.156_158del
ENST00000696586.1:n.156_158del
ENST00000696587.1:c.109_111del ENSP00000512737.1:p.Leu37del
ENST00000696588.1:c.-501_-499del ENSP00000513251.1:n.-501_-499del
ENST00000696627.1:c.109_111del ENSP00000512764.1:p.Leu37del
ENST00000696628.1:c.109_111del ENSP00000512765.1:p.Leu37del
ENST00000369550.10:c.109_111del MANE Select ENSP00000358563.5:p.Leu37del
ENST00000369550.9:c.109_111del ENSP00000358563.5:p.Leu37del
ENST00000413910.5:c.109_111del ENSP00000400542.1:p.Leu37del
ENST00000437719.5:c.65_67del
ENST00000452771.5:c.67_69del ENSP00000407325.1:p.Leu23del
ENST00000473552.1:n.162_164del
ENST00000620277.4:c.109_111del ENSP00000478387.1:p.Leu37del
NM_001142463.2:c.109_111del NP_001135935.1:p.Leu37del
NM_001288747.1:c.109_111del NP_001275676.1:p.Leu37del
NM_001363.4:c.109_111del NP_001354.1:p.Leu37del
NR_110021.1:n.810_812del
NR_110022.1:n.333_335del
NR_110023.1:n.333_335del
NM_001363.5:c.109_111del MANE Select NP_001354.1:p.Leu37del
NM_001142463.3:c.109_111del NP_001135935.1:p.Leu37del
NR_110021.2:n.688_690del
NR_110022.2:n.211_213del
NR_110023.2:n.211_213del
NM_001288747.2:c.109_111del NP_001275676.1:p.Leu37del
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