Canonical Allele Identifier: CA2466788270
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154776130C= , CM000685.2:g.154776130C= GRCh38
NC_000023.10:g.154004405C= , CM000685.1:g.154004405C= GRCh37
NC_000023.9:g.153657599C= NCBI36
NG_009780.1:g.18375C= , LRG_55:g.18375C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.*135-57C= ENSP00000400542.2:n.*135-57C=
ENST00000426673.6:c.*781-57C= ENSP00000407253.3:n.*781-57C=
ENST00000484317.6:n.1613-57C=
ENST00000492372.2:n.277-57C=
ENST00000696575.1:c.1324-57C= ENSP00000512730.1:n.1324-57C=
ENST00000696577.1:c.1339-57C= ENSP00000512731.1:n.1339-57C=
ENST00000696578.1:c.*291-57C= ENSP00000512732.1:n.*291-57C=
ENST00000696579.1:n.2297C=
ENST00000696580.1:c.1252-57C= ENSP00000512733.1:n.1252-57C=
ENST00000696581.1:c.*1313-57C= ENSP00000512734.1:n.*1313-57C=
ENST00000696582.1:c.*545-57C= ENSP00000512735.1:n.*545-57C=
ENST00000696583.1:c.1300-57C= ENSP00000512736.1:n.1300-57C=
ENST00000696584.1:n.1863-57C=
ENST00000696585.1:n.1982-57C=
ENST00000696586.1:n.1756-57C=
ENST00000696587.1:c.1219-57C= ENSP00000512737.1:n.1219-57C=
ENST00000696588.1:c.730-57C= ENSP00000513251.1:n.730-57C=
ENST00000696589.1:n.1114-57C=
ENST00000696590.1:n.2308C=
ENST00000696591.1:n.688-57C=
ENST00000696592.1:n.3563C=
ENST00000696627.1:c.*165-57C= ENSP00000512764.1:n.*165-57C=
ENST00000696628.1:c.1339-57C= ENSP00000512765.1:n.1339-57C=
ENST00000369550.10:c.1339-57C= MANE Select ENSP00000358563.5:n.1339-57C=
ENST00000369550.9:c.1339-57C= ENSP00000358563.5:n.1339-57C=
ENST00000412124.5:c.597-57C=
ENST00000426673.5:c.758-57C=
ENST00000475966.1:n.828-57C=
ENST00000492372.1:n.156-57C=
ENST00000620277.4:c.*565-57C= ENSP00000478387.1:n.*565-57C=
NM_001142463.2:c.1324-57C= NP_001135935.1:n.1324-57C=
NM_001288747.1:c.*565-57C= NP_001275676.1:n.*565-57C=
NM_001363.4:c.1339-57C= NP_001354.1:n.1339-57C=
NR_110021.1:n.2040-57C=
NR_110022.1:n.2159-57C=
NR_110023.1:n.1933-57C=
NM_001363.5:c.1339-57C= MANE Select NP_001354.1:n.1339-57C=
NM_001142463.3:c.1324-57C= NP_001135935.1:n.1324-57C=
NR_110021.2:n.1918-57C=
NR_110022.2:n.2037-57C=
NR_110023.2:n.1811-57C=
NM_001288747.2:c.*565-57C= NP_001275676.1:n.*565-57C=