Canonical Allele Identifier: CA2739273848
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2781139
ClinVar RCV Id: RCV003646001

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154764974del , CM000685.2:g.154764974del GRCh38
NC_000023.10:g.153993249del , CM000685.1:g.153993249del GRCh37
NC_000023.9:g.153646443del NCBI36
NG_009780.1:g.7219del , LRG_55:g.7219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.84+8del ENSP00000400542.2:n.84+8del
ENST00000426673.6:c.84+8del ENSP00000407253.3:n.84+8del
ENST00000696575.1:c.84+8del ENSP00000512730.1:n.84+8del
ENST00000696576.1:n.186+8del
ENST00000696577.1:c.84+8del ENSP00000512731.1:n.84+8del
ENST00000696578.1:c.84+8del ENSP00000512732.1:n.84+8del
ENST00000696579.1:n.186+8del
ENST00000696580.1:c.84+8del ENSP00000512733.1:n.84+8del
ENST00000696581.1:c.84+8del ENSP00000512734.1:n.84+8del
ENST00000696582.1:c.84+8del ENSP00000512735.1:n.84+8del
ENST00000696583.1:c.84+8del ENSP00000512736.1:n.84+8del
ENST00000696584.1:n.139del
ENST00000696585.1:n.131+8del
ENST00000696586.1:n.131+8del
ENST00000696587.1:c.84+8del ENSP00000512737.1:n.84+8del
ENST00000696588.1:c.-995del ENSP00000513251.1:n.-995del
ENST00000696627.1:c.84+8del ENSP00000512764.1:n.84+8del
ENST00000696628.1:c.84+8del ENSP00000512765.1:n.84+8del
ENST00000369550.10:c.84+8del MANE Select ENSP00000358563.5:n.84+8del
ENST00000369550.9:c.84+8del ENSP00000358563.5:n.84+8del
ENST00000413910.5:c.84+8del ENSP00000400542.1:n.84+8del
ENST00000437719.5:c.40+8del
ENST00000452771.5:c.42+8del ENSP00000407325.1:n.42+8del
ENST00000473552.1:n.137+8del
ENST00000475423.1:n.206del
ENST00000620277.4:c.84+8del ENSP00000478387.1:n.84+8del
NM_001142463.2:c.84+8del NP_001135935.1:n.84+8del
NM_001288747.1:c.84+8del NP_001275676.1:n.84+8del
NM_001363.4:c.84+8del NP_001354.1:n.84+8del
NR_110021.1:n.316del
NR_110022.1:n.308+8del
NR_110023.1:n.308+8del
NM_001363.5:c.84+8del MANE Select NP_001354.1:n.84+8del
NM_001142463.3:c.84+8del NP_001135935.1:n.84+8del
NR_110021.2:n.194del
NR_110022.2:n.186+8del
NR_110023.2:n.186+8del
NM_001288747.2:c.84+8del NP_001275676.1:n.84+8del