Canonical Allele Identifier: CA2579743415

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773075C>T , CM000685.2:g.154773075C>T	GRCh38
NC_000023.10:g.154001350C>T , CM000685.1:g.154001350C>T	GRCh37
NC_000023.9:g.153654544C>T	NCBI36
NG_009780.1:g.15320C>T , LRG_55:g.15320C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.917-56C>T	ENSP00000400542.2:n.917-56C>T
ENST00000426673.6:c.*420-56C>T	ENSP00000407253.3:n.*420-56C>T
ENST00000484317.6:n.822-56C>T
ENST00000696575.1:c.1037-56C>T	ENSP00000512730.1:n.1037-56C>T
ENST00000696577.1:c.1037-56C>T	ENSP00000512731.1:n.1037-56C>T
ENST00000696578.1:c.916-56C>T	ENSP00000512732.1:n.916-56C>T
ENST00000696579.1:n.1139-56C>T
ENST00000696580.1:c.950-56C>T	ENSP00000512733.1:n.950-56C>T
ENST00000696581.1:c.*1011-56C>T	ENSP00000512734.1:n.*1011-56C>T
ENST00000696582.1:c.*243-56C>T	ENSP00000512735.1:n.*243-56C>T
ENST00000696583.1:c.998-56C>T	ENSP00000512736.1:n.998-56C>T
ENST00000696584.1:n.1561-56C>T
ENST00000696585.1:n.1680-56C>T
ENST00000696586.1:n.1454-56C>T
ENST00000696587.1:c.917-56C>T	ENSP00000512737.1:n.917-56C>T
ENST00000696588.1:c.428-56C>T	ENSP00000513251.1:n.428-56C>T
ENST00000696589.1:n.812-56C>T
ENST00000696590.1:n.661-56C>T
ENST00000696591.1:n.386-56C>T
ENST00000696592.1:n.1860C>T
ENST00000696627.1:c.1037-56C>T	ENSP00000512764.1:n.1037-56C>T
ENST00000696628.1:c.1037-56C>T	ENSP00000512765.1:n.1037-56C>T
ENST00000369550.10:c.1037-56C>T MANE Select	ENSP00000358563.5:n.1037-56C>T
ENST00000369550.9:c.1037-56C>T	ENSP00000358563.5:n.1037-56C>T
ENST00000412124.5:c.295-56C>T
ENST00000426673.5:c.397-56C>T
ENST00000475966.1:n.526-56C>T
ENST00000620277.4:c.1037-56C>T	ENSP00000478387.1:n.1037-56C>T
NM_001142463.2:c.1037-56C>T	NP_001135935.1:n.1037-56C>T
NM_001288747.1:c.1037-56C>T	NP_001275676.1:n.1037-56C>T
NM_001363.4:c.1037-56C>T	NP_001354.1:n.1037-56C>T
NR_110021.1:n.1738-56C>T
NR_110022.1:n.1857-56C>T
NR_110023.1:n.1631-56C>T
NM_001363.5:c.1037-56C>T MANE Select	NP_001354.1:n.1037-56C>T
NM_001142463.3:c.1037-56C>T	NP_001135935.1:n.1037-56C>T
NR_110021.2:n.1616-56C>T
NR_110022.2:n.1735-56C>T
NR_110023.2:n.1509-56C>T
NM_001288747.2:c.1037-56C>T	NP_001275676.1:n.1037-56C>T