Canonical Allele Identifier: CA2645836121
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039568-GGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039576_55039666del , CM000663.2:g.55039576_55039666del GRCh38
NC_000001.10:g.55505249_55505339del , CM000663.1:g.55505249_55505339del GRCh37
NC_000001.9:g.55277837_55277927del NCBI36
NG_009061.1:g.5030_5120del , LRG_275:g.5030_5120del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-262_-172del ENSP00000501161.2:n.-262_-172del
ENST00000710286.1:c.96_186del ENSP00000518176.1:p.Arg32SerfsTer?
ENST00000673726.1:c.-262_-172del ENSP00000501004.1:n.-262_-172del
ENST00000302118.5:c.-262_-172del MANE Select ENSP00000303208.5:n.-262_-172del
NM_174936.3:c.-262_-172del , LRG_275t1:c.-262_-172del NP_777596.2:n.-262_-172del
NM_174936.4:c.-262_-172del MANE Select NP_777596.2:n.-262_-172del
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