Canonical Allele Identifier: CA2695161314

Gene: DKC1

Linked Data

• gnomAD v4: X-154773245-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773248del , CM000685.2:g.154773248del	GRCh38
NC_000023.10:g.154001523del , CM000685.1:g.154001523del	GRCh37
NC_000023.9:g.153654717del	NCBI36
NG_009780.1:g.15493del , LRG_55:g.15493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1034del	ENSP00000400542.2:p.Lys345ArgfsTer7
ENST00000426673.6:c.*537del	ENSP00000407253.3:n.*537del
ENST00000484317.6:n.939del
ENST00000696575.1:c.1154del	ENSP00000512730.1:p.Lys385ArgfsTer7
ENST00000696577.1:c.1154del	ENSP00000512731.1:p.Lys385ArgfsTer7
ENST00000696578.1:c.*106del	ENSP00000512732.1:n.*106del
ENST00000696579.1:n.1256del
ENST00000696580.1:c.1067del	ENSP00000512733.1:p.Lys356ArgfsTer7
ENST00000696581.1:c.*1128del	ENSP00000512734.1:n.*1128del
ENST00000696582.1:c.*360del	ENSP00000512735.1:n.*360del
ENST00000696583.1:c.1115del	ENSP00000512736.1:p.Lys372ArgfsTer7
ENST00000696584.1:n.1678del
ENST00000696585.1:n.1797del
ENST00000696586.1:n.1571del
ENST00000696587.1:c.1034del	ENSP00000512737.1:p.Lys345ArgfsTer7
ENST00000696588.1:c.545del	ENSP00000513251.1:p.Lys182ArgfsTer7
ENST00000696589.1:n.929del
ENST00000696590.1:n.778del
ENST00000696591.1:n.503del
ENST00000696592.1:n.2033del
ENST00000696627.1:c.1154del	ENSP00000512764.1:p.Lys385ArgfsTer2
ENST00000696628.1:c.1154del	ENSP00000512765.1:p.Lys385ArgfsTer7
ENST00000369550.10:c.1154del MANE Select	ENSP00000358563.5:p.Lys385ArgfsTer7
ENST00000369550.9:c.1154del	ENSP00000358563.5:p.Lys385ArgfsTer7
ENST00000412124.5:c.412del
ENST00000426673.5:c.514del
ENST00000475966.1:n.643del
ENST00000481062.1:n.105del
ENST00000620277.4:c.1154del	ENSP00000478387.1:p.Lys385ArgfsTer7
NM_001142463.2:c.1154del	NP_001135935.1:p.Lys385ArgfsTer7
NM_001288747.1:c.1154del	NP_001275676.1:p.Lys385ArgfsTer7
NM_001363.4:c.1154del	NP_001354.1:p.Lys385ArgfsTer7
NR_110021.1:n.1855del
NR_110022.1:n.1974del
NR_110023.1:n.1748del
NM_001363.5:c.1154del MANE Select	NP_001354.1:p.Lys385ArgfsTer7
NM_001142463.3:c.1154del	NP_001135935.1:p.Lys385ArgfsTer7
NR_110021.2:n.1733del
NR_110022.2:n.1852del
NR_110023.2:n.1626del
NM_001288747.2:c.1154del	NP_001275676.1:p.Lys385ArgfsTer7