Canonical Allele Identifier: CA2695162339

Gene: DKC1

Linked Data

• gnomAD v4: X-154776165-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776165T>A , CM000685.2:g.154776165T>A	GRCh38
NC_000023.10:g.154004440T>A , CM000685.1:g.154004440T>A	GRCh37
NC_000023.9:g.153657634T>A	NCBI36
NG_009780.1:g.18410T>A , LRG_55:g.18410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*135-22T>A	ENSP00000400542.2:n.*135-22T>A
ENST00000426673.6:c.*781-22T>A	ENSP00000407253.3:n.*781-22T>A
ENST00000484317.6:n.1613-22T>A
ENST00000492372.2:n.277-22T>A
ENST00000696575.1:c.1324-22T>A	ENSP00000512730.1:n.1324-22T>A
ENST00000696577.1:c.1339-22T>A	ENSP00000512731.1:n.1339-22T>A
ENST00000696578.1:c.*291-22T>A	ENSP00000512732.1:n.*291-22T>A
ENST00000696579.1:n.2332T>A
ENST00000696580.1:c.1252-22T>A	ENSP00000512733.1:n.1252-22T>A
ENST00000696581.1:c.*1313-22T>A	ENSP00000512734.1:n.*1313-22T>A
ENST00000696582.1:c.*545-22T>A	ENSP00000512735.1:n.*545-22T>A
ENST00000696583.1:c.1300-22T>A	ENSP00000512736.1:n.1300-22T>A
ENST00000696584.1:n.1863-22T>A
ENST00000696585.1:n.1982-22T>A
ENST00000696586.1:n.1756-22T>A
ENST00000696587.1:c.1219-22T>A	ENSP00000512737.1:n.1219-22T>A
ENST00000696588.1:c.730-22T>A	ENSP00000513251.1:n.730-22T>A
ENST00000696589.1:n.1114-22T>A
ENST00000696590.1:n.2343T>A
ENST00000696591.1:n.688-22T>A
ENST00000696592.1:n.3598T>A
ENST00000696627.1:c.*165-22T>A	ENSP00000512764.1:n.*165-22T>A
ENST00000696628.1:c.1339-22T>A	ENSP00000512765.1:n.1339-22T>A
ENST00000369550.10:c.1339-22T>A MANE Select	ENSP00000358563.5:n.1339-22T>A
ENST00000369550.9:c.1339-22T>A	ENSP00000358563.5:n.1339-22T>A
ENST00000412124.5:c.597-22T>A
ENST00000426673.5:c.758-22T>A
ENST00000475966.1:n.828-22T>A
ENST00000492372.1:n.156-22T>A
ENST00000620277.4:c.*565-22T>A	ENSP00000478387.1:n.*565-22T>A
NM_001142463.2:c.1324-22T>A	NP_001135935.1:n.1324-22T>A
NM_001288747.1:c.*565-22T>A	NP_001275676.1:n.*565-22T>A
NM_001363.4:c.1339-22T>A	NP_001354.1:n.1339-22T>A
NR_110021.1:n.2040-22T>A
NR_110022.1:n.2159-22T>A
NR_110023.1:n.1933-22T>A
NM_001363.5:c.1339-22T>A MANE Select	NP_001354.1:n.1339-22T>A
NM_001142463.3:c.1324-22T>A	NP_001135935.1:n.1324-22T>A
NR_110021.2:n.1918-22T>A
NR_110022.2:n.2037-22T>A
NR_110023.2:n.1811-22T>A
NM_001288747.2:c.*565-22T>A	NP_001275676.1:n.*565-22T>A