Canonical Allele Identifier: CA414898522

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774706G>A , CM000685.2:g.154774706G>A	GRCh38
NC_000023.10:g.154002981G>A , CM000685.1:g.154002981G>A	GRCh37
NC_000023.9:g.153656175G>A	NCBI36
NG_009780.1:g.16951G>A , LRG_55:g.16951G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.1259+1G>A MANE Select	NP_001354.1:n.1259+1G>A
ENST00000369550.10:c.1259+1G>A MANE Select	ENSP00000358563.5:n.1259+1G>A
NM_001142463.2:c.1244+16G>A	NP_001135935.1:n.1244+16G>A
NM_001142463.3:c.1244+16G>A	NP_001135935.1:n.1244+16G>A
NM_001288747.1:c.1260G>A	NP_001275676.1:p.Arg420=
NM_001288747.2:c.1260G>A	NP_001275676.1:p.Arg420=
NM_001363.4:c.1259+1G>A	NP_001354.1:n.1259+1G>A
NR_110021.1:n.1960+1G>A
NR_110021.2:n.1838+1G>A
NR_110022.1:n.2079+1G>A
NR_110022.2:n.1957+1G>A
NR_110023.1:n.1853+1G>A
NR_110023.2:n.1731+1G>A
ENST00000369550.9:c.1259+1G>A	ENSP00000358563.5:n.1259+1G>A
ENST00000412124.5:c.517+1G>A
ENST00000413910.6:c.1139+1G>A	ENSP00000400542.2:n.1139+1G>A
ENST00000426673.5:c.619+1G>A
ENST00000426673.6:c.*642+1G>A	ENSP00000407253.3:n.*642+1G>A
ENST00000475966.1:n.748+1G>A
ENST00000481062.1:n.211G>A
ENST00000484317.6:n.1045G>A
ENST00000620277.4:c.1260G>A	ENSP00000478387.1:p.Arg420=
ENST00000696575.1:c.1244+16G>A	ENSP00000512730.1:n.1244+16G>A
ENST00000696577.1:c.1259+1G>A	ENSP00000512731.1:n.1259+1G>A
ENST00000696578.1:c.*211+1G>A	ENSP00000512732.1:n.*211+1G>A
ENST00000696579.1:n.1361+1G>A
ENST00000696580.1:c.1172+1G>A	ENSP00000512733.1:n.1172+1G>A
ENST00000696581.1:c.*1233+1G>A	ENSP00000512734.1:n.*1233+1G>A
ENST00000696582.1:c.*465+1G>A	ENSP00000512735.1:n.*465+1G>A
ENST00000696583.1:c.1220+1G>A	ENSP00000512736.1:n.1220+1G>A
ENST00000696584.1:n.1783+1G>A
ENST00000696585.1:n.1902+1G>A
ENST00000696586.1:n.1676+1G>A
ENST00000696587.1:c.1139+1G>A	ENSP00000512737.1:n.1139+1G>A
ENST00000696588.1:c.650+1G>A	ENSP00000513251.1:n.650+1G>A
ENST00000696589.1:n.1034+1G>A
ENST00000696590.1:n.884G>A
ENST00000696591.1:n.608+1G>A
ENST00000696592.1:n.2139G>A
ENST00000696627.1:c.*85+1G>A	ENSP00000512764.1:n.*85+1G>A
ENST00000696628.1:c.1259+1G>A	ENSP00000512765.1:n.1259+1G>A