Canonical Allele Identifier: CA2695162311

Gene: DKC1

Linked Data

• gnomAD v4: X-154776131-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776131C>T , CM000685.2:g.154776131C>T	GRCh38
NC_000023.10:g.154004406C>T , CM000685.1:g.154004406C>T	GRCh37
NC_000023.9:g.153657600C>T	NCBI36
NG_009780.1:g.18376C>T , LRG_55:g.18376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*135-56C>T	ENSP00000400542.2:n.*135-56C>T
ENST00000426673.6:c.*781-56C>T	ENSP00000407253.3:n.*781-56C>T
ENST00000484317.6:n.1613-56C>T
ENST00000492372.2:n.277-56C>T
ENST00000696575.1:c.1324-56C>T	ENSP00000512730.1:n.1324-56C>T
ENST00000696577.1:c.1339-56C>T	ENSP00000512731.1:n.1339-56C>T
ENST00000696578.1:c.*291-56C>T	ENSP00000512732.1:n.*291-56C>T
ENST00000696579.1:n.2298C>T
ENST00000696580.1:c.1252-56C>T	ENSP00000512733.1:n.1252-56C>T
ENST00000696581.1:c.*1313-56C>T	ENSP00000512734.1:n.*1313-56C>T
ENST00000696582.1:c.*545-56C>T	ENSP00000512735.1:n.*545-56C>T
ENST00000696583.1:c.1300-56C>T	ENSP00000512736.1:n.1300-56C>T
ENST00000696584.1:n.1863-56C>T
ENST00000696585.1:n.1982-56C>T
ENST00000696586.1:n.1756-56C>T
ENST00000696587.1:c.1219-56C>T	ENSP00000512737.1:n.1219-56C>T
ENST00000696588.1:c.730-56C>T	ENSP00000513251.1:n.730-56C>T
ENST00000696589.1:n.1114-56C>T
ENST00000696590.1:n.2309C>T
ENST00000696591.1:n.688-56C>T
ENST00000696592.1:n.3564C>T
ENST00000696627.1:c.*165-56C>T	ENSP00000512764.1:n.*165-56C>T
ENST00000696628.1:c.1339-56C>T	ENSP00000512765.1:n.1339-56C>T
ENST00000369550.10:c.1339-56C>T MANE Select	ENSP00000358563.5:n.1339-56C>T
ENST00000369550.9:c.1339-56C>T	ENSP00000358563.5:n.1339-56C>T
ENST00000412124.5:c.597-56C>T
ENST00000426673.5:c.758-56C>T
ENST00000475966.1:n.828-56C>T
ENST00000492372.1:n.156-56C>T
ENST00000620277.4:c.*565-56C>T	ENSP00000478387.1:n.*565-56C>T
NM_001142463.2:c.1324-56C>T	NP_001135935.1:n.1324-56C>T
NM_001288747.1:c.*565-56C>T	NP_001275676.1:n.*565-56C>T
NM_001363.4:c.1339-56C>T	NP_001354.1:n.1339-56C>T
NR_110021.1:n.2040-56C>T
NR_110022.1:n.2159-56C>T
NR_110023.1:n.1933-56C>T
NM_001363.5:c.1339-56C>T MANE Select	NP_001354.1:n.1339-56C>T
NM_001142463.3:c.1324-56C>T	NP_001135935.1:n.1324-56C>T
NR_110021.2:n.1918-56C>T
NR_110022.2:n.2037-56C>T
NR_110023.2:n.1811-56C>T
NM_001288747.2:c.*565-56C>T	NP_001275676.1:n.*565-56C>T