Canonical Allele Identifier: CA2579743408

Gene: DKC1

Linked Data

• gnomAD v4: X-154773056-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773056C>A , CM000685.2:g.154773056C>A	GRCh38
NC_000023.10:g.154001331C>A , CM000685.1:g.154001331C>A	GRCh37
NC_000023.9:g.153654525C>A	NCBI36
NG_009780.1:g.15301C>A , LRG_55:g.15301C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.917-75C>A	ENSP00000400542.2:n.917-75C>A
ENST00000426673.6:c.*420-75C>A	ENSP00000407253.3:n.*420-75C>A
ENST00000484317.6:n.822-75C>A
ENST00000696575.1:c.1037-75C>A	ENSP00000512730.1:n.1037-75C>A
ENST00000696577.1:c.1037-75C>A	ENSP00000512731.1:n.1037-75C>A
ENST00000696578.1:c.916-75C>A	ENSP00000512732.1:n.916-75C>A
ENST00000696579.1:n.1139-75C>A
ENST00000696580.1:c.950-75C>A	ENSP00000512733.1:n.950-75C>A
ENST00000696581.1:c.*1011-75C>A	ENSP00000512734.1:n.*1011-75C>A
ENST00000696582.1:c.*243-75C>A	ENSP00000512735.1:n.*243-75C>A
ENST00000696583.1:c.998-75C>A	ENSP00000512736.1:n.998-75C>A
ENST00000696584.1:n.1561-75C>A
ENST00000696585.1:n.1680-75C>A
ENST00000696586.1:n.1454-75C>A
ENST00000696587.1:c.917-75C>A	ENSP00000512737.1:n.917-75C>A
ENST00000696588.1:c.428-75C>A	ENSP00000513251.1:n.428-75C>A
ENST00000696589.1:n.812-75C>A
ENST00000696590.1:n.661-75C>A
ENST00000696591.1:n.386-75C>A
ENST00000696592.1:n.1841C>A
ENST00000696627.1:c.1037-75C>A	ENSP00000512764.1:n.1037-75C>A
ENST00000696628.1:c.1037-75C>A	ENSP00000512765.1:n.1037-75C>A
ENST00000369550.10:c.1037-75C>A MANE Select	ENSP00000358563.5:n.1037-75C>A
ENST00000369550.9:c.1037-75C>A	ENSP00000358563.5:n.1037-75C>A
ENST00000412124.5:c.295-75C>A
ENST00000426673.5:c.397-75C>A
ENST00000475966.1:n.526-75C>A
ENST00000620277.4:c.1037-75C>A	ENSP00000478387.1:n.1037-75C>A
NM_001142463.2:c.1037-75C>A	NP_001135935.1:n.1037-75C>A
NM_001288747.1:c.1037-75C>A	NP_001275676.1:n.1037-75C>A
NM_001363.4:c.1037-75C>A	NP_001354.1:n.1037-75C>A
NR_110021.1:n.1738-75C>A
NR_110022.1:n.1857-75C>A
NR_110023.1:n.1631-75C>A
NM_001363.5:c.1037-75C>A MANE Select	NP_001354.1:n.1037-75C>A
NM_001142463.3:c.1037-75C>A	NP_001135935.1:n.1037-75C>A
NR_110021.2:n.1616-75C>A
NR_110022.2:n.1735-75C>A
NR_110023.2:n.1509-75C>A
NM_001288747.2:c.1037-75C>A	NP_001275676.1:n.1037-75C>A