Canonical Allele Identifier: CA2579743410

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773059T>C , CM000685.2:g.154773059T>C	GRCh38
NC_000023.10:g.154001334T>C , CM000685.1:g.154001334T>C	GRCh37
NC_000023.9:g.153654528T>C	NCBI36
NG_009780.1:g.15304T>C , LRG_55:g.15304T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.917-72T>C	ENSP00000400542.2:n.917-72T>C
ENST00000426673.6:c.*420-72T>C	ENSP00000407253.3:n.*420-72T>C
ENST00000484317.6:n.822-72T>C
ENST00000696575.1:c.1037-72T>C	ENSP00000512730.1:n.1037-72T>C
ENST00000696577.1:c.1037-72T>C	ENSP00000512731.1:n.1037-72T>C
ENST00000696578.1:c.916-72T>C	ENSP00000512732.1:n.916-72T>C
ENST00000696579.1:n.1139-72T>C
ENST00000696580.1:c.950-72T>C	ENSP00000512733.1:n.950-72T>C
ENST00000696581.1:c.*1011-72T>C	ENSP00000512734.1:n.*1011-72T>C
ENST00000696582.1:c.*243-72T>C	ENSP00000512735.1:n.*243-72T>C
ENST00000696583.1:c.998-72T>C	ENSP00000512736.1:n.998-72T>C
ENST00000696584.1:n.1561-72T>C
ENST00000696585.1:n.1680-72T>C
ENST00000696586.1:n.1454-72T>C
ENST00000696587.1:c.917-72T>C	ENSP00000512737.1:n.917-72T>C
ENST00000696588.1:c.428-72T>C	ENSP00000513251.1:n.428-72T>C
ENST00000696589.1:n.812-72T>C
ENST00000696590.1:n.661-72T>C
ENST00000696591.1:n.386-72T>C
ENST00000696592.1:n.1844T>C
ENST00000696627.1:c.1037-72T>C	ENSP00000512764.1:n.1037-72T>C
ENST00000696628.1:c.1037-72T>C	ENSP00000512765.1:n.1037-72T>C
ENST00000369550.10:c.1037-72T>C MANE Select	ENSP00000358563.5:n.1037-72T>C
ENST00000369550.9:c.1037-72T>C	ENSP00000358563.5:n.1037-72T>C
ENST00000412124.5:c.295-72T>C
ENST00000426673.5:c.397-72T>C
ENST00000475966.1:n.526-72T>C
ENST00000620277.4:c.1037-72T>C	ENSP00000478387.1:n.1037-72T>C
NM_001142463.2:c.1037-72T>C	NP_001135935.1:n.1037-72T>C
NM_001288747.1:c.1037-72T>C	NP_001275676.1:n.1037-72T>C
NM_001363.4:c.1037-72T>C	NP_001354.1:n.1037-72T>C
NR_110021.1:n.1738-72T>C
NR_110022.1:n.1857-72T>C
NR_110023.1:n.1631-72T>C
NM_001363.5:c.1037-72T>C MANE Select	NP_001354.1:n.1037-72T>C
NM_001142463.3:c.1037-72T>C	NP_001135935.1:n.1037-72T>C
NR_110021.2:n.1616-72T>C
NR_110022.2:n.1735-72T>C
NR_110023.2:n.1509-72T>C
NM_001288747.2:c.1037-72T>C	NP_001275676.1:n.1037-72T>C