Canonical Allele Identifier: CA1565417988
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1761406521

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429058del , CM000667.2:g.96429058del GRCh38
NC_000005.9:g.95764762del , CM000667.1:g.95764762del GRCh37
NC_000005.8:g.95790518del NCBI36
NG_021161.1:g.9225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+156del MANE Select ENSP00000308024.2:n.285+156del
ENST00000311106.7:c.285+156del ENSP00000308024.2:n.285+156del
ENST00000508626.5:c.144+156del ENSP00000421600.1:n.144+156del
ENST00000509190.1:c.285+156del ENSP00000427294.1:n.285+156del
NM_000439.4:c.285+156del NP_000430.3:n.285+156del
NM_001177875.1:c.144+156del NP_001171346.1:n.144+156del
NR_130776.1:n.354+49406del
NM_000439.5:c.285+156del MANE Select NP_000430.3:n.285+156del
NM_001177875.2:c.144+156del NP_001171346.1:n.144+156del