Canonical Allele Identifier: CA414898999

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154775233A>G , CM000685.2:g.154775233A>G	GRCh38
NC_000023.10:g.154003508A>G , CM000685.1:g.154003508A>G	GRCh37
NC_000023.9:g.153656702A>G	NCBI36
NG_009780.1:g.17478A>G , LRG_55:g.17478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*94A>G	ENSP00000400542.2:n.*94A>G
ENST00000426673.6:c.*740A>G	ENSP00000407253.3:n.*740A>G
ENST00000484317.6:n.1572A>G
ENST00000492372.2:n.236A>G
ENST00000696575.1:c.1283A>G	ENSP00000512730.1:p.Lys428Arg
ENST00000696577.1:c.1298A>G	ENSP00000512731.1:p.Lys433Arg
ENST00000696578.1:c.*250A>G	ENSP00000512732.1:n.*250A>G
ENST00000696579.1:n.1400A>G
ENST00000696580.1:c.1211A>G	ENSP00000512733.1:p.Lys404Arg
ENST00000696581.1:c.*1272A>G	ENSP00000512734.1:n.*1272A>G
ENST00000696582.1:c.*504A>G	ENSP00000512735.1:n.*504A>G
ENST00000696583.1:c.1259A>G	ENSP00000512736.1:p.Lys420Arg
ENST00000696584.1:n.1822A>G
ENST00000696585.1:n.1941A>G
ENST00000696586.1:n.1715A>G
ENST00000696587.1:c.1178A>G	ENSP00000512737.1:p.Lys393Arg
ENST00000696588.1:c.689A>G	ENSP00000513251.1:p.Lys230Arg
ENST00000696589.1:n.1073A>G
ENST00000696590.1:n.1411A>G
ENST00000696591.1:n.647A>G
ENST00000696592.1:n.2666A>G
ENST00000696627.1:c.*124A>G	ENSP00000512764.1:n.*124A>G
ENST00000696628.1:c.1298A>G	ENSP00000512765.1:p.Lys433Arg
ENST00000369550.10:c.1298A>G MANE Select	ENSP00000358563.5:p.Lys433Arg
ENST00000369550.9:c.1298A>G	ENSP00000358563.5:p.Lys433Arg
ENST00000412124.5:c.556A>G
ENST00000426673.5:c.717A>G
ENST00000475966.1:n.787A>G
ENST00000481062.1:n.738A>G
ENST00000492372.1:n.115A>G
ENST00000620277.4:c.*524A>G	ENSP00000478387.1:n.*524A>G
NM_001142463.2:c.1283A>G	NP_001135935.1:p.Lys428Arg
NM_001288747.1:c.*524A>G	NP_001275676.1:n.*524A>G
NM_001363.4:c.1298A>G	NP_001354.1:p.Lys433Arg
NR_110021.1:n.1999A>G
NR_110022.1:n.2118A>G
NR_110023.1:n.1892A>G
NM_001363.5:c.1298A>G MANE Select	NP_001354.1:p.Lys433Arg
NM_001142463.3:c.1283A>G	NP_001135935.1:p.Lys428Arg
NR_110021.2:n.1877A>G
NR_110022.2:n.1996A>G
NR_110023.2:n.1770A>G
NM_001288747.2:c.*524A>G	NP_001275676.1:n.*524A>G