Canonical Allele Identifier: CA920450436
Gene: DKC1 HGNC NCBI

Linked Data

dbSNP Id: rs1603429395

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154765472delinsAG , CM000685.2:g.154765472delinsAG GRCh38
NC_000023.10:g.153993747delinsAG , CM000685.1:g.153993747delinsAG GRCh37
NC_000023.9:g.153646941delinsAG NCBI36
NG_009780.1:g.7717delinsAG , LRG_55:g.7717delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.113delinsAG ENSP00000400542.2:p.Ile38LysfsTer4
ENST00000426673.6:c.113delinsAG ENSP00000407253.3:p.Ile38LysfsTer4
ENST00000696575.1:c.113delinsAG ENSP00000512730.1:p.Ile38LysfsTer4
ENST00000696576.1:n.215delinsAG
ENST00000696577.1:c.113delinsAG ENSP00000512731.1:p.Ile38LysfsTer4
ENST00000696578.1:c.113delinsAG ENSP00000512732.1:p.Ile38LysfsTer4
ENST00000696579.1:n.215delinsAG
ENST00000696580.1:c.85-435delinsAG ENSP00000512733.1:n.85-435delinsAG
ENST00000696581.1:c.*87delinsAG ENSP00000512734.1:n.*87delinsAG
ENST00000696582.1:c.113delinsAG ENSP00000512735.1:p.Ile38LysfsTer4
ENST00000696583.1:c.113delinsAG ENSP00000512736.1:p.Ile38LysfsTer4
ENST00000696584.1:n.637delinsAG
ENST00000696585.1:n.160delinsAG
ENST00000696586.1:n.160delinsAG
ENST00000696587.1:c.113delinsAG ENSP00000512737.1:p.Ile38LysfsTer4
ENST00000696588.1:c.-497delinsAG ENSP00000513251.1:n.-497delinsAG
ENST00000696627.1:c.113delinsAG ENSP00000512764.1:p.Ile38LysfsTer4
ENST00000696628.1:c.113delinsAG ENSP00000512765.1:p.Ile38LysfsTer4
ENST00000369550.10:c.113delinsAG MANE Select ENSP00000358563.5:p.Ile38LysfsTer4
ENST00000369550.9:c.113delinsAG ENSP00000358563.5:p.Ile38LysfsTer4
ENST00000413910.5:c.113delinsAG ENSP00000400542.1:p.Ile38LysfsTer4
ENST00000437719.5:c.69delinsAG
ENST00000452771.5:c.71delinsAG ENSP00000407325.1:p.Ile24LysfsTer4
ENST00000473552.1:n.166delinsAG
ENST00000620277.4:c.113delinsAG ENSP00000478387.1:p.Ile38LysfsTer4
NM_001142463.2:c.113delinsAG NP_001135935.1:p.Ile38LysfsTer4
NM_001288747.1:c.113delinsAG NP_001275676.1:p.Ile38LysfsTer4
NM_001363.4:c.113delinsAG NP_001354.1:p.Ile38LysfsTer4
NR_110021.1:n.814delinsAG
NR_110022.1:n.337delinsAG
NR_110023.1:n.337delinsAG
NM_001363.5:c.113delinsAG MANE Select NP_001354.1:p.Ile38LysfsTer4
NM_001142463.3:c.113delinsAG NP_001135935.1:p.Ile38LysfsTer4
NR_110021.2:n.692delinsAG
NR_110022.2:n.215delinsAG
NR_110023.2:n.215delinsAG
NM_001288747.2:c.113delinsAG NP_001275676.1:p.Ile38LysfsTer4