Canonical Allele Identifier: CA414894111
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674846
ClinVar RCV Id: RCV003459971

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154770807C>T , CM000685.2:g.154770807C>T GRCh38
NC_000023.10:g.153999082C>T , CM000685.1:g.153999082C>T GRCh37
NC_000023.9:g.153652276C>T NCBI36
NG_009780.1:g.13052C>T , LRG_55:g.13052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.844C>T ENSP00000400542.2:p.Arg282Ter
ENST00000426673.6:c.*347C>T ENSP00000407253.3:n.*347C>T
ENST00000484317.6:n.749C>T
ENST00000696575.1:c.964C>T ENSP00000512730.1:p.Arg322Ter
ENST00000696577.1:c.964C>T ENSP00000512731.1:p.Arg322Ter
ENST00000696578.1:c.915+1497C>T ENSP00000512732.1:n.915+1497C>T
ENST00000696579.1:n.1066C>T
ENST00000696580.1:c.877C>T ENSP00000512733.1:p.Arg293Ter
ENST00000696581.1:c.*938C>T ENSP00000512734.1:n.*938C>T
ENST00000696582.1:c.*170C>T ENSP00000512735.1:n.*170C>T
ENST00000696583.1:c.925C>T ENSP00000512736.1:p.Arg309Ter
ENST00000696584.1:n.1488C>T
ENST00000696585.1:n.1607C>T
ENST00000696586.1:n.1381C>T
ENST00000696587.1:c.844C>T ENSP00000512737.1:p.Arg282Ter
ENST00000696588.1:c.355C>T ENSP00000513251.1:p.Arg119Ter
ENST00000696589.1:n.739C>T
ENST00000696590.1:n.588C>T
ENST00000696591.1:n.313C>T
ENST00000696627.1:c.964C>T ENSP00000512764.1:p.Arg322Ter
ENST00000696628.1:c.964C>T ENSP00000512765.1:p.Arg322Ter
ENST00000369550.10:c.964C>T MANE Select ENSP00000358563.5:p.Arg322Ter
ENST00000369550.9:c.964C>T ENSP00000358563.5:p.Arg322Ter
ENST00000412124.5:c.222C>T
ENST00000426673.5:c.324C>T
ENST00000475966.1:n.453C>T
ENST00000484317.5:n.602C>T
ENST00000620277.4:c.964C>T ENSP00000478387.1:p.Arg322Ter
NM_001142463.2:c.964C>T NP_001135935.1:p.Arg322Ter
NM_001288747.1:c.964C>T NP_001275676.1:p.Arg322Ter
NM_001363.4:c.964C>T NP_001354.1:p.Arg322Ter
NR_110021.1:n.1665C>T
NR_110022.1:n.1784C>T
NR_110023.1:n.1558C>T
NM_001363.5:c.964C>T MANE Select NP_001354.1:p.Arg322Ter
NM_001142463.3:c.964C>T NP_001135935.1:p.Arg322Ter
NR_110021.2:n.1543C>T
NR_110022.2:n.1662C>T
NR_110023.2:n.1436C>T
NM_001288747.2:c.964C>T NP_001275676.1:p.Arg322Ter