Canonical Allele Identifier: CA2466784741

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765949_154765950delinsCT , CM000685.2:g.154765949_154765950delinsCT	GRCh38
NC_000023.10:g.153994224_153994225delinsCT , CM000685.1:g.153994224_153994225delinsCT	GRCh37
NC_000023.9:g.153647418_153647419delinsCT	NCBI36
NG_009780.1:g.8194_8195delinsCT , LRG_55:g.8194_8195delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.214_215delinsCT	ENSP00000400542.2:p.Leu72=
ENST00000426673.6:c.214_215delinsCT	ENSP00000407253.3:p.Leu72=
ENST00000696575.1:c.214_215delinsCT	ENSP00000512730.1:p.Leu72=
ENST00000696576.1:n.316_317delinsCT
ENST00000696577.1:c.214_215delinsCT	ENSP00000512731.1:p.Leu72=
ENST00000696578.1:c.214_215delinsCT	ENSP00000512732.1:p.Leu72=
ENST00000696579.1:n.316_317delinsCT
ENST00000696580.1:c.127_128delinsCT	ENSP00000512733.1:p.Leu43=
ENST00000696581.1:c.*188_*189delinsCT	ENSP00000512734.1:n.*188_*189delinsCT
ENST00000696582.1:c.214_215delinsCT	ENSP00000512735.1:p.Leu72=
ENST00000696583.1:c.214_215delinsCT	ENSP00000512736.1:p.Leu72=
ENST00000696584.1:n.738_739delinsCT
ENST00000696585.1:n.261_262delinsCT
ENST00000696586.1:n.261_262delinsCT
ENST00000696587.1:c.214_215delinsCT	ENSP00000512737.1:p.Leu72=
ENST00000696588.1:c.-396_-395delinsCT	ENSP00000513251.1:n.-396_-395delinsCT
ENST00000696627.1:c.214_215delinsCT	ENSP00000512764.1:p.Leu72=
ENST00000696628.1:c.214_215delinsCT	ENSP00000512765.1:p.Leu72=
ENST00000369550.10:c.214_215delinsCT MANE Select	ENSP00000358563.5:p.Leu72=
ENST00000369550.9:c.214_215delinsCT	ENSP00000358563.5:p.Leu72=
ENST00000413910.5:c.214_215delinsCT	ENSP00000400542.1:p.Leu72=
ENST00000437719.5:c.170_171delinsCT
ENST00000452771.5:c.172_173delinsCT	ENSP00000407325.1:p.Leu58=
ENST00000473552.1:n.267_268delinsCT
ENST00000620277.4:c.214_215delinsCT	ENSP00000478387.1:p.Leu72=
NM_001142463.2:c.214_215delinsCT	NP_001135935.1:p.Leu72=
NM_001288747.1:c.214_215delinsCT	NP_001275676.1:p.Leu72=
NM_001363.4:c.214_215delinsCT	NP_001354.1:p.Leu72=
NR_110021.1:n.915_916delinsCT
NR_110022.1:n.438_439delinsCT
NR_110023.1:n.438_439delinsCT
NM_001363.5:c.214_215delinsCT MANE Select	NP_001354.1:p.Leu72=
NM_001142463.3:c.214_215delinsCT	NP_001135935.1:p.Leu72=
NR_110021.2:n.793_794delinsCT
NR_110022.2:n.316_317delinsCT
NR_110023.2:n.316_317delinsCT
NM_001288747.2:c.214_215delinsCT	NP_001275676.1:p.Leu72=