Canonical Allele Identifier: CA2466784484
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765112_154765114delinsGAC , CM000685.2:g.154765112_154765114delinsGAC GRCh38
NC_000023.10:g.153993387_153993389delinsGAC , CM000685.1:g.153993387_153993389delinsGAC GRCh37
NC_000023.9:g.153646581_153646583delinsGAC NCBI36
NG_009780.1:g.7357_7359delinsGAC , LRG_55:g.7357_7359delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.84+146_84+148delinsGAC ENSP00000400542.2:n.84+146_84+148delinsGAC
ENST00000426673.6:c.84+146_84+148delinsGAC ENSP00000407253.3:n.84+146_84+148delinsGAC
ENST00000696575.1:c.84+146_84+148delinsGAC ENSP00000512730.1:n.84+146_84+148delinsGAC
ENST00000696576.1:n.186+146_186+148delinsGAC
ENST00000696577.1:c.84+146_84+148delinsGAC ENSP00000512731.1:n.84+146_84+148delinsGAC
ENST00000696578.1:c.84+146_84+148delinsGAC ENSP00000512732.1:n.84+146_84+148delinsGAC
ENST00000696579.1:n.186+146_186+148delinsGAC
ENST00000696580.1:c.84+146_84+148delinsGAC ENSP00000512733.1:n.84+146_84+148delinsGAC
ENST00000696581.1:c.84+146_84+148delinsGAC ENSP00000512734.1:n.84+146_84+148delinsGAC
ENST00000696582.1:c.84+146_84+148delinsGAC ENSP00000512735.1:n.84+146_84+148delinsGAC
ENST00000696583.1:c.84+146_84+148delinsGAC ENSP00000512736.1:n.84+146_84+148delinsGAC
ENST00000696584.1:n.277_279delinsGAC
ENST00000696585.1:n.131+146_131+148delinsGAC
ENST00000696586.1:n.131+146_131+148delinsGAC
ENST00000696587.1:c.84+146_84+148delinsGAC ENSP00000512737.1:n.84+146_84+148delinsGAC
ENST00000696588.1:c.-857_-855delinsGAC ENSP00000513251.1:n.-857_-855delinsGAC
ENST00000696627.1:c.84+146_84+148delinsGAC ENSP00000512764.1:n.84+146_84+148delinsGAC
ENST00000696628.1:c.84+146_84+148delinsGAC ENSP00000512765.1:n.84+146_84+148delinsGAC
ENST00000369550.10:c.84+146_84+148delinsGAC MANE Select ENSP00000358563.5:n.84+146_84+148delinsGAC
ENST00000369550.9:c.84+146_84+148delinsGAC ENSP00000358563.5:n.84+146_84+148delinsGAC
ENST00000413910.5:c.84+146_84+148delinsGAC ENSP00000400542.1:n.84+146_84+148delinsGAC
ENST00000437719.5:c.40+146_40+148delinsGAC
ENST00000452771.5:c.42+146_42+148delinsGAC ENSP00000407325.1:n.42+146_42+148delinsGAC
ENST00000473552.1:n.137+146_137+148delinsGAC
ENST00000475423.1:n.344_346delinsGAC
ENST00000620277.4:c.84+146_84+148delinsGAC ENSP00000478387.1:n.84+146_84+148delinsGAC
NM_001142463.2:c.84+146_84+148delinsGAC NP_001135935.1:n.84+146_84+148delinsGAC
NM_001288747.1:c.84+146_84+148delinsGAC NP_001275676.1:n.84+146_84+148delinsGAC
NM_001363.4:c.84+146_84+148delinsGAC NP_001354.1:n.84+146_84+148delinsGAC
NR_110021.1:n.454_456delinsGAC
NR_110022.1:n.308+146_308+148delinsGAC
NR_110023.1:n.308+146_308+148delinsGAC
NM_001363.5:c.84+146_84+148delinsGAC MANE Select NP_001354.1:n.84+146_84+148delinsGAC
NM_001142463.3:c.84+146_84+148delinsGAC NP_001135935.1:n.84+146_84+148delinsGAC
NR_110021.2:n.332_334delinsGAC
NR_110022.2:n.186+146_186+148delinsGAC
NR_110023.2:n.186+146_186+148delinsGAC
NM_001288747.2:c.84+146_84+148delinsGAC NP_001275676.1:n.84+146_84+148delinsGAC