Canonical Allele Identifier: CA10567056

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154767364G>A , CM000685.2:g.154767364G>A	GRCh38
NC_000023.10:g.153995639G>A , CM000685.1:g.153995639G>A	GRCh37
NC_000023.9:g.153648833G>A	NCBI36
NG_009780.1:g.9609G>A , LRG_55:g.9609G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.622G>A MANE Select	NP_001354.1:p.Asp208Asn
ENST00000369550.10:c.622G>A MANE Select	ENSP00000358563.5:p.Asp208Asn
NM_001142463.2:c.622G>A	NP_001135935.1:p.Asp208Asn
NM_001142463.3:c.622G>A	NP_001135935.1:p.Asp208Asn
NM_001288747.1:c.622G>A	NP_001275676.1:p.Asp208Asn
NM_001288747.2:c.622G>A	NP_001275676.1:p.Asp208Asn
NM_001363.4:c.622G>A	NP_001354.1:p.Asp208Asn
NR_110021.1:n.1323G>A
NR_110021.2:n.1201G>A
NR_110022.1:n.1442G>A
NR_110022.2:n.1320G>A
NR_110023.1:n.846G>A
NR_110023.2:n.724G>A
ENST00000369550.9:c.622G>A	ENSP00000358563.5:p.Asp208Asn
ENST00000412124.5:c.155G>A
ENST00000413910.5:c.622G>A	ENSP00000400542.1:p.Asp208Asn
ENST00000413910.6:c.622G>A	ENSP00000400542.2:p.Asp208Asn
ENST00000426673.6:c.*5G>A	ENSP00000407253.3:n.*5G>A
ENST00000437719.5:c.578G>A
ENST00000452771.5:c.515G>A	ENSP00000407325.1:n.515G>A
ENST00000620277.4:c.622G>A	ENSP00000478387.1:p.Asp208Asn
ENST00000696575.1:c.622G>A	ENSP00000512730.1:p.Asp208Asn
ENST00000696576.1:n.724G>A
ENST00000696577.1:c.622G>A	ENSP00000512731.1:p.Asp208Asn
ENST00000696578.1:c.622G>A	ENSP00000512732.1:p.Asp208Asn
ENST00000696579.1:n.724G>A
ENST00000696580.1:c.535G>A	ENSP00000512733.1:p.Asp179Asn
ENST00000696581.1:c.*596G>A	ENSP00000512734.1:n.*596G>A
ENST00000696582.1:c.622G>A	ENSP00000512735.1:p.Asp208Asn
ENST00000696583.1:c.622G>A	ENSP00000512736.1:p.Asp208Asn
ENST00000696584.1:n.1146G>A
ENST00000696585.1:n.1265G>A
ENST00000696586.1:n.669G>A
ENST00000696587.1:c.502G>A	ENSP00000512737.1:p.Asp168Asn
ENST00000696588.1:c.13G>A	ENSP00000513251.1:p.Asp5Asn
ENST00000696627.1:c.622G>A	ENSP00000512764.1:p.Asp208Asn
ENST00000696628.1:c.622G>A	ENSP00000512765.1:p.Asp208Asn