Canonical Allele Identifier: CA2578366384
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429269-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429273del , CM000667.2:g.96429273del GRCh38
NC_000005.9:g.95764977del , CM000667.1:g.95764977del GRCh37
NC_000005.8:g.95790733del NCBI36
NG_021161.1:g.9012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.228del MANE Select ENSP00000308024.2:p.Arg77GlufsTer20
ENST00000311106.7:c.228del ENSP00000308024.2:p.Arg77GlufsTer20
ENST00000508626.5:c.87del ENSP00000421600.1:p.Arg30GlufsTer20
ENST00000509190.1:c.228del ENSP00000427294.1:p.Arg77GlufsTer20
NM_000439.4:c.228del NP_000430.3:p.Arg77GlufsTer20
NM_001177875.1:c.87del NP_001171346.1:p.Arg30GlufsTer20
NR_130776.1:n.354+49621del
NM_000439.5:c.228del MANE Select NP_000430.3:p.Arg77GlufsTer20
NM_001177875.2:c.87del NP_001171346.1:p.Arg30GlufsTer20
Search 100 bp 5'
Search 100 bp 3'