Canonical Allele Identifier: CA2695159733

Gene: DKC1

Linked Data

• gnomAD v4: X-154764869-A-AATTCCCAAATCCTGTGTTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAGCGGAAGTCATTGCCAGAAGAAGATGTAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154764870_154764966dup , CM000685.2:g.154764870_154764966dup	GRCh38
NC_000023.10:g.153993145_153993241dup , CM000685.1:g.153993145_153993241dup	GRCh37
NC_000023.9:g.153646339_153646435dup	NCBI36
NG_009780.1:g.7115_7211dup , LRG_55:g.7115_7211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.17-29_84dup
ENST00000426673.6:c.17-29_84dup
ENST00000696575.1:c.17-29_84dup
ENST00000696576.1:n.119-29_186dup
ENST00000696577.1:c.17-29_84dup
ENST00000696578.1:c.17-29_84dup
ENST00000696579.1:n.119-29_186dup
ENST00000696580.1:c.17-29_84dup
ENST00000696581.1:c.17-29_84dup
ENST00000696582.1:c.17-29_84dup
ENST00000696583.1:c.17-29_84dup
ENST00000696584.1:n.64-29_131dup
ENST00000696585.1:n.64-29_131dup
ENST00000696586.1:n.64-29_131dup
ENST00000696587.1:c.17-29_84dup
ENST00000696588.1:c.-1099_-1003dup	ENSP00000513251.1:n.-1099_-1003dup
ENST00000696627.1:c.17-29_84dup
ENST00000696628.1:c.17-29_84dup
ENST00000369550.10:c.17-29_84dup
ENST00000369550.9:c.17-29_84dup
ENST00000413910.5:c.17-29_84dup
ENST00000473552.1:n.70-29_137dup
ENST00000475423.1:n.131-29_198dup
ENST00000620277.4:c.17-29_84dup
NM_001142463.2:c.17-29_84dup
NM_001288747.1:c.17-29_84dup
NM_001363.4:c.17-29_84dup
NR_110021.1:n.241-29_308dup
NR_110022.1:n.241-29_308dup
NR_110023.1:n.241-29_308dup
NM_001363.5:c.17-29_84dup
NM_001142463.3:c.17-29_84dup
NR_110021.2:n.119-29_186dup
NR_110022.2:n.119-29_186dup
NR_110023.2:n.119-29_186dup
NM_001288747.2:c.17-29_84dup