Canonical Allele Identifier: CA2695159278
Gene: DKC1 HGNC NCBI

Linked Data

gnomAD v4: X-154762758-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154762758C>A , CM000685.2:g.154762758C>A GRCh38
NC_000023.10:g.153991033C>A , CM000685.1:g.153991033C>A GRCh37
NC_000023.9:g.153644227C>A NCBI36
NG_009780.1:g.5003C>A , LRG_55:g.5003C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.-208C>A ENSP00000400542.2:n.-208C>A
ENST00000426673.6:c.-208C>A ENSP00000407253.3:n.-208C>A
ENST00000369550.9:c.-208C>A ENSP00000358563.5:n.-208C>A
ENST00000620277.4:c.-208C>A ENSP00000478387.1:n.-208C>A
NM_001142463.2:c.-208C>A NP_001135935.1:n.-208C>A
NM_001288747.1:c.-208C>A NP_001275676.1:n.-208C>A
NM_001363.4:c.-208C>A NP_001354.1:n.-208C>A
NR_110021.1:n.17C>A
NR_110022.1:n.17C>A
NR_110023.1:n.17C>A
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