Canonical Allele Identifier: CA2824310379
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765098_154765099insTCATT , CM000685.2:g.154765098_154765099insTCATT GRCh38
NC_000023.10:g.153993373_153993374insTCATT , CM000685.1:g.153993373_153993374insTCATT GRCh37
NC_000023.9:g.153646567_153646568insTCATT NCBI36
NG_009780.1:g.7343_7344insTCATT , LRG_55:g.7343_7344insTCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.84+132_84+133insTCATT ENSP00000400542.2:n.84+132_84+133insTCATT
ENST00000426673.6:c.84+132_84+133insTCATT ENSP00000407253.3:n.84+132_84+133insTCATT
ENST00000696575.1:c.84+132_84+133insTCATT ENSP00000512730.1:n.84+132_84+133insTCATT
ENST00000696576.1:n.186+132_186+133insTCATT
ENST00000696577.1:c.84+132_84+133insTCATT ENSP00000512731.1:n.84+132_84+133insTCATT
ENST00000696578.1:c.84+132_84+133insTCATT ENSP00000512732.1:n.84+132_84+133insTCATT
ENST00000696579.1:n.186+132_186+133insTCATT
ENST00000696580.1:c.84+132_84+133insTCATT ENSP00000512733.1:n.84+132_84+133insTCATT
ENST00000696581.1:c.84+132_84+133insTCATT ENSP00000512734.1:n.84+132_84+133insTCATT
ENST00000696582.1:c.84+132_84+133insTCATT ENSP00000512735.1:n.84+132_84+133insTCATT
ENST00000696583.1:c.84+132_84+133insTCATT ENSP00000512736.1:n.84+132_84+133insTCATT
ENST00000696584.1:n.263_264insTCATT
ENST00000696585.1:n.131+132_131+133insTCATT
ENST00000696586.1:n.131+132_131+133insTCATT
ENST00000696587.1:c.84+132_84+133insTCATT ENSP00000512737.1:n.84+132_84+133insTCATT
ENST00000696588.1:c.-871_-870insTCATT ENSP00000513251.1:n.-871_-870insTCATT
ENST00000696627.1:c.84+132_84+133insTCATT ENSP00000512764.1:n.84+132_84+133insTCATT
ENST00000696628.1:c.84+132_84+133insTCATT ENSP00000512765.1:n.84+132_84+133insTCATT
ENST00000369550.10:c.84+132_84+133insTCATT MANE Select ENSP00000358563.5:n.84+132_84+133insTCATT
ENST00000369550.9:c.84+132_84+133insTCATT ENSP00000358563.5:n.84+132_84+133insTCATT
ENST00000413910.5:c.84+132_84+133insTCATT ENSP00000400542.1:n.84+132_84+133insTCATT
ENST00000437719.5:c.40+132_40+133insTCATT
ENST00000452771.5:c.42+132_42+133insTCATT ENSP00000407325.1:n.42+132_42+133insTCATT
ENST00000473552.1:n.137+132_137+133insTCATT
ENST00000475423.1:n.330_331insTCATT
ENST00000620277.4:c.84+132_84+133insTCATT ENSP00000478387.1:n.84+132_84+133insTCATT
NM_001142463.2:c.84+132_84+133insTCATT NP_001135935.1:n.84+132_84+133insTCATT
NM_001288747.1:c.84+132_84+133insTCATT NP_001275676.1:n.84+132_84+133insTCATT
NM_001363.4:c.84+132_84+133insTCATT NP_001354.1:n.84+132_84+133insTCATT
NR_110021.1:n.440_441insTCATT
NR_110022.1:n.308+132_308+133insTCATT
NR_110023.1:n.308+132_308+133insTCATT
NM_001363.5:c.84+132_84+133insTCATT MANE Select NP_001354.1:n.84+132_84+133insTCATT
NM_001142463.3:c.84+132_84+133insTCATT NP_001135935.1:n.84+132_84+133insTCATT
NR_110021.2:n.318_319insTCATT
NR_110022.2:n.186+132_186+133insTCATT
NR_110023.2:n.186+132_186+133insTCATT
NM_001288747.2:c.84+132_84+133insTCATT NP_001275676.1:n.84+132_84+133insTCATT