Canonical Allele Identifier: CA2577241338
Gene: PNKD HGNC NCBI

Linked Data

gnomAD v4: 2-218270452-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218270452C>T , CM000664.2:g.218270452C>T GRCh38
NC_000002.11:g.219135175C>T , CM000664.1:g.219135175C>T GRCh37
NC_000002.10:g.218843419C>T NCBI36
NG_017060.1:g.5061C>T
NG_033036.1:g.4719G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691799.1:n.70+732C>T
ENST00000248451.7:c.-84C>T ENSP00000248451.3:n.-84C>T
NM_001077399.2:c.-84C>T NP_001070867.1:n.-84C>T
NM_015488.4:c.-84C>T NP_056303.3:n.-84C>T
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