Canonical Allele Identifier: CA2695160935

Gene: DKC1

Linked Data

• gnomAD v4: X-154769069-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769069G>T , CM000685.2:g.154769069G>T	GRCh38
NC_000023.10:g.153997344G>T , CM000685.1:g.153997344G>T	GRCh37
NC_000023.9:g.153650538G>T	NCBI36
NG_009780.1:g.11314G>T , LRG_55:g.11314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.652-98G>T	ENSP00000400542.2:n.652-98G>T
ENST00000426673.6:c.*155-98G>T	ENSP00000407253.3:n.*155-98G>T
ENST00000484317.6:n.557-98G>T
ENST00000696575.1:c.772-98G>T	ENSP00000512730.1:n.772-98G>T
ENST00000696576.1:n.874-98G>T
ENST00000696577.1:c.772-98G>T	ENSP00000512731.1:n.772-98G>T
ENST00000696578.1:c.772-98G>T	ENSP00000512732.1:n.772-98G>T
ENST00000696579.1:n.874-98G>T
ENST00000696580.1:c.685-98G>T	ENSP00000512733.1:n.685-98G>T
ENST00000696581.1:c.*746-98G>T	ENSP00000512734.1:n.*746-98G>T
ENST00000696582.1:c.641-98G>T	ENSP00000512735.1:n.641-98G>T
ENST00000696583.1:c.772-137G>T	ENSP00000512736.1:n.772-137G>T
ENST00000696584.1:n.1296-98G>T
ENST00000696585.1:n.1415-98G>T
ENST00000696586.1:n.1189-98G>T
ENST00000696587.1:c.652-98G>T	ENSP00000512737.1:n.652-98G>T
ENST00000696588.1:c.163-98G>T	ENSP00000513251.1:n.163-98G>T
ENST00000696589.1:n.547-98G>T
ENST00000696590.1:n.396-98G>T
ENST00000696591.1:n.23G>T
ENST00000696627.1:c.772-98G>T	ENSP00000512764.1:n.772-98G>T
ENST00000696628.1:c.772-98G>T	ENSP00000512765.1:n.772-98G>T
ENST00000369550.10:c.772-98G>T MANE Select	ENSP00000358563.5:n.772-98G>T
ENST00000369550.9:c.772-98G>T	ENSP00000358563.5:n.772-98G>T
ENST00000412124.5:c.173+1687G>T
ENST00000413910.5:c.652-98G>T	ENSP00000400542.1:n.652-98G>T
ENST00000426673.5:c.132-98G>T
ENST00000452771.5:c.665-98G>T	ENSP00000407325.1:n.665-98G>T
ENST00000475966.1:n.261-98G>T
ENST00000484317.5:n.410-98G>T
ENST00000620277.4:c.772-98G>T	ENSP00000478387.1:n.772-98G>T
NM_001142463.2:c.772-98G>T	NP_001135935.1:n.772-98G>T
NM_001288747.1:c.772-98G>T	NP_001275676.1:n.772-98G>T
NM_001363.4:c.772-98G>T	NP_001354.1:n.772-98G>T
NR_110021.1:n.1473-98G>T
NR_110022.1:n.1592-98G>T
NR_110023.1:n.1366-98G>T
NM_001363.5:c.772-98G>T MANE Select	NP_001354.1:n.772-98G>T
NM_001142463.3:c.772-98G>T	NP_001135935.1:n.772-98G>T
NR_110021.2:n.1351-98G>T
NR_110022.2:n.1470-98G>T
NR_110023.2:n.1244-98G>T
NM_001288747.2:c.772-98G>T	NP_001275676.1:n.772-98G>T