Canonical Allele Identifier: CA2466784465
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765036_154765037delinsAG , CM000685.2:g.154765036_154765037delinsAG GRCh38
NC_000023.10:g.153993311_153993312delinsAG , CM000685.1:g.153993311_153993312delinsAG GRCh37
NC_000023.9:g.153646505_153646506delinsAG NCBI36
NG_009780.1:g.7281_7282delinsAG , LRG_55:g.7281_7282delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.84+70_84+71delinsAG ENSP00000400542.2:n.84+70_84+71delinsAG
ENST00000426673.6:c.84+70_84+71delinsAG ENSP00000407253.3:n.84+70_84+71delinsAG
ENST00000696575.1:c.84+70_84+71delinsAG ENSP00000512730.1:n.84+70_84+71delinsAG
ENST00000696576.1:n.186+70_186+71delinsAG
ENST00000696577.1:c.84+70_84+71delinsAG ENSP00000512731.1:n.84+70_84+71delinsAG
ENST00000696578.1:c.84+70_84+71delinsAG ENSP00000512732.1:n.84+70_84+71delinsAG
ENST00000696579.1:n.186+70_186+71delinsAG
ENST00000696580.1:c.84+70_84+71delinsAG ENSP00000512733.1:n.84+70_84+71delinsAG
ENST00000696581.1:c.84+70_84+71delinsAG ENSP00000512734.1:n.84+70_84+71delinsAG
ENST00000696582.1:c.84+70_84+71delinsAG ENSP00000512735.1:n.84+70_84+71delinsAG
ENST00000696583.1:c.84+70_84+71delinsAG ENSP00000512736.1:n.84+70_84+71delinsAG
ENST00000696584.1:n.201_202delinsAG
ENST00000696585.1:n.131+70_131+71delinsAG
ENST00000696586.1:n.131+70_131+71delinsAG
ENST00000696587.1:c.84+70_84+71delinsAG ENSP00000512737.1:n.84+70_84+71delinsAG
ENST00000696588.1:c.-933_-932delinsAG ENSP00000513251.1:n.-933_-932delinsAG
ENST00000696627.1:c.84+70_84+71delinsAG ENSP00000512764.1:n.84+70_84+71delinsAG
ENST00000696628.1:c.84+70_84+71delinsAG ENSP00000512765.1:n.84+70_84+71delinsAG
ENST00000369550.10:c.84+70_84+71delinsAG MANE Select ENSP00000358563.5:n.84+70_84+71delinsAG
ENST00000369550.9:c.84+70_84+71delinsAG ENSP00000358563.5:n.84+70_84+71delinsAG
ENST00000413910.5:c.84+70_84+71delinsAG ENSP00000400542.1:n.84+70_84+71delinsAG
ENST00000437719.5:c.40+70_40+71delinsAG
ENST00000452771.5:c.42+70_42+71delinsAG ENSP00000407325.1:n.42+70_42+71delinsAG
ENST00000473552.1:n.137+70_137+71delinsAG
ENST00000475423.1:n.268_269delinsAG
ENST00000620277.4:c.84+70_84+71delinsAG ENSP00000478387.1:n.84+70_84+71delinsAG
NM_001142463.2:c.84+70_84+71delinsAG NP_001135935.1:n.84+70_84+71delinsAG
NM_001288747.1:c.84+70_84+71delinsAG NP_001275676.1:n.84+70_84+71delinsAG
NM_001363.4:c.84+70_84+71delinsAG NP_001354.1:n.84+70_84+71delinsAG
NR_110021.1:n.378_379delinsAG
NR_110022.1:n.308+70_308+71delinsAG
NR_110023.1:n.308+70_308+71delinsAG
NM_001363.5:c.84+70_84+71delinsAG MANE Select NP_001354.1:n.84+70_84+71delinsAG
NM_001142463.3:c.84+70_84+71delinsAG NP_001135935.1:n.84+70_84+71delinsAG
NR_110021.2:n.256_257delinsAG
NR_110022.2:n.186+70_186+71delinsAG
NR_110023.2:n.186+70_186+71delinsAG
NM_001288747.2:c.84+70_84+71delinsAG NP_001275676.1:n.84+70_84+71delinsAG