Canonical Allele Identifier: CA1565417971
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429033_96429036delinsCTTG , CM000667.2:g.96429033_96429036delinsCTTG GRCh38
NC_000005.9:g.95764737_95764740delinsCTTG , CM000667.1:g.95764737_95764740delinsCTTG GRCh37
NC_000005.8:g.95790493_95790496delinsCTTG NCBI36
NG_021161.1:g.9246_9249delinsCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+177_285+180delinsCAAG MANE Select ENSP00000308024.2:n.285+177_285+180delinsCAAG
ENST00000311106.7:c.285+177_285+180delinsCAAG ENSP00000308024.2:n.285+177_285+180delinsCAAG
ENST00000508626.5:c.144+177_144+180delinsCAAG ENSP00000421600.1:n.144+177_144+180delinsCAAG
ENST00000509190.1:c.285+177_285+180delinsCAAG ENSP00000427294.1:n.285+177_285+180delinsCAAG
NM_000439.4:c.285+177_285+180delinsCAAG NP_000430.3:n.285+177_285+180delinsCAAG
NM_001177875.1:c.144+177_144+180delinsCAAG NP_001171346.1:n.144+177_144+180delinsCAAG
NR_130776.1:n.354+49381_354+49384delinsCTTG
NM_000439.5:c.285+177_285+180delinsCAAG MANE Select NP_000430.3:n.285+177_285+180delinsCAAG
NM_001177875.2:c.144+177_144+180delinsCAAG NP_001171346.1:n.144+177_144+180delinsCAAG