Canonical Allele Identifier: CA10566949
Community Standard Title: NM_001363.5(DKC1):c.17-14_17-13del
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154764885_154764886del , CM000685.2:g.154764885_154764886del GRCh38
NC_000023.10:g.153993160_153993161del , CM000685.1:g.153993160_153993161del GRCh37
NC_000023.9:g.153646354_153646355del NCBI36
NG_009780.1:g.7130_7131del , LRG_55:g.7130_7131del

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.17-14_17-13del MANE Select NP_001354.1:n.17-14_17-13del
ENST00000369550.10:c.17-14_17-13del MANE Select ENSP00000358563.5:n.17-14_17-13del
NM_001142463.2:c.17-14_17-13del NP_001135935.1:n.17-14_17-13del
NM_001142463.3:c.17-14_17-13del NP_001135935.1:n.17-14_17-13del
NM_001288747.1:c.17-14_17-13del NP_001275676.1:n.17-14_17-13del
NM_001288747.2:c.17-14_17-13del NP_001275676.1:n.17-14_17-13del
NM_001363.4:c.17-14_17-13del NP_001354.1:n.17-14_17-13del
NR_110021.1:n.241-14_241-13del
NR_110021.2:n.119-14_119-13del
NR_110022.1:n.241-14_241-13del
NR_110022.2:n.119-14_119-13del
NR_110023.1:n.241-14_241-13del
NR_110023.2:n.119-14_119-13del
ENST00000369550.9:c.17-14_17-13del ENSP00000358563.5:n.17-14_17-13del
ENST00000413910.5:c.17-14_17-13del ENSP00000400542.1:n.17-14_17-13del
ENST00000413910.6:c.17-14_17-13del ENSP00000400542.2:n.17-14_17-13del
ENST00000426673.6:c.17-14_17-13del ENSP00000407253.3:n.17-14_17-13del
ENST00000473552.1:n.70-14_70-13del
ENST00000475423.1:n.131-14_131-13del
ENST00000620277.4:c.17-14_17-13del ENSP00000478387.1:n.17-14_17-13del
ENST00000696575.1:c.17-14_17-13del ENSP00000512730.1:n.17-14_17-13del
ENST00000696576.1:n.119-14_119-13del
ENST00000696577.1:c.17-14_17-13del ENSP00000512731.1:n.17-14_17-13del
ENST00000696578.1:c.17-14_17-13del ENSP00000512732.1:n.17-14_17-13del
ENST00000696579.1:n.119-14_119-13del
ENST00000696580.1:c.17-14_17-13del ENSP00000512733.1:n.17-14_17-13del
ENST00000696581.1:c.17-14_17-13del ENSP00000512734.1:n.17-14_17-13del
ENST00000696582.1:c.17-14_17-13del ENSP00000512735.1:n.17-14_17-13del
ENST00000696583.1:c.17-14_17-13del ENSP00000512736.1:n.17-14_17-13del
ENST00000696584.1:n.64-14_64-13del
ENST00000696585.1:n.64-14_64-13del
ENST00000696586.1:n.64-14_64-13del
ENST00000696587.1:c.17-14_17-13del ENSP00000512737.1:n.17-14_17-13del
ENST00000696588.1:c.-1084_-1083del ENSP00000513251.1:n.-1084_-1083del
ENST00000696627.1:c.17-14_17-13del ENSP00000512764.1:n.17-14_17-13del
ENST00000696628.1:c.17-14_17-13del ENSP00000512765.1:n.17-14_17-13del