Canonical Allele Identifier: CA2579743407

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773055A>T , CM000685.2:g.154773055A>T	GRCh38
NC_000023.10:g.154001330A>T , CM000685.1:g.154001330A>T	GRCh37
NC_000023.9:g.153654524A>T	NCBI36
NG_009780.1:g.15300A>T , LRG_55:g.15300A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.917-76A>T	ENSP00000400542.2:n.917-76A>T
ENST00000426673.6:c.*420-76A>T	ENSP00000407253.3:n.*420-76A>T
ENST00000484317.6:n.822-76A>T
ENST00000696575.1:c.1037-76A>T	ENSP00000512730.1:n.1037-76A>T
ENST00000696577.1:c.1037-76A>T	ENSP00000512731.1:n.1037-76A>T
ENST00000696578.1:c.916-76A>T	ENSP00000512732.1:n.916-76A>T
ENST00000696579.1:n.1139-76A>T
ENST00000696580.1:c.950-76A>T	ENSP00000512733.1:n.950-76A>T
ENST00000696581.1:c.*1011-76A>T	ENSP00000512734.1:n.*1011-76A>T
ENST00000696582.1:c.*243-76A>T	ENSP00000512735.1:n.*243-76A>T
ENST00000696583.1:c.998-76A>T	ENSP00000512736.1:n.998-76A>T
ENST00000696584.1:n.1561-76A>T
ENST00000696585.1:n.1680-76A>T
ENST00000696586.1:n.1454-76A>T
ENST00000696587.1:c.917-76A>T	ENSP00000512737.1:n.917-76A>T
ENST00000696588.1:c.428-76A>T	ENSP00000513251.1:n.428-76A>T
ENST00000696589.1:n.812-76A>T
ENST00000696590.1:n.661-76A>T
ENST00000696591.1:n.386-76A>T
ENST00000696592.1:n.1840A>T
ENST00000696627.1:c.1037-76A>T	ENSP00000512764.1:n.1037-76A>T
ENST00000696628.1:c.1037-76A>T	ENSP00000512765.1:n.1037-76A>T
ENST00000369550.10:c.1037-76A>T MANE Select	ENSP00000358563.5:n.1037-76A>T
ENST00000369550.9:c.1037-76A>T	ENSP00000358563.5:n.1037-76A>T
ENST00000412124.5:c.295-76A>T
ENST00000426673.5:c.397-76A>T
ENST00000475966.1:n.526-76A>T
ENST00000620277.4:c.1037-76A>T	ENSP00000478387.1:n.1037-76A>T
NM_001142463.2:c.1037-76A>T	NP_001135935.1:n.1037-76A>T
NM_001288747.1:c.1037-76A>T	NP_001275676.1:n.1037-76A>T
NM_001363.4:c.1037-76A>T	NP_001354.1:n.1037-76A>T
NR_110021.1:n.1738-76A>T
NR_110022.1:n.1857-76A>T
NR_110023.1:n.1631-76A>T
NM_001363.5:c.1037-76A>T MANE Select	NP_001354.1:n.1037-76A>T
NM_001142463.3:c.1037-76A>T	NP_001135935.1:n.1037-76A>T
NR_110021.2:n.1616-76A>T
NR_110022.2:n.1735-76A>T
NR_110023.2:n.1509-76A>T
NM_001288747.2:c.1037-76A>T	NP_001275676.1:n.1037-76A>T