Canonical Allele Identifier: CA2695159265
Gene: DKC1 HGNC NCBI

Linked Data

gnomAD v4: X-154762745-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154762745C>A , CM000685.2:g.154762745C>A GRCh38
NC_000023.10:g.153991020C>A , CM000685.1:g.153991020C>A GRCh37
NC_000023.9:g.153644214C>A NCBI36
NG_009780.1:g.4990C>A , LRG_55:g.4990C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000620277.4:c.-221C>A ENSP00000478387.1:n.-221C>A
NM_001142463.2:c.-221C>A NP_001135935.1:n.-221C>A
NM_001288747.1:c.-221C>A NP_001275676.1:n.-221C>A
NM_001363.4:c.-221C>A NP_001354.1:n.-221C>A
NR_110021.1:n.4C>A
NR_110022.1:n.4C>A
NR_110023.1:n.4C>A
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