Canonical Allele Identifier: CA2709555186

Gene: PCSK1

Linked Data

• dbSNP Id: rs2112396846

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96398938del , CM000667.2:g.96398938del	GRCh38
NC_000005.9:g.95734642del , CM000667.1:g.95734642del	GRCh37
NC_000005.8:g.95760398del	NCBI36
NG_021161.1:g.39345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1530del MANE Select	ENSP00000308024.2:p.Ala511GlnfsTer?
ENST00000311106.7:c.1530del	ENSP00000308024.2:p.Ala511GlnfsTer?
ENST00000508626.5:c.1389del	ENSP00000421600.1:p.Ala464GlnfsTer?
ENST00000513085.1:n.673del
NM_000439.4:c.1530del	NP_000430.3:p.Ala511GlnfsTer?
NM_001177875.1:c.1389del	NP_001171346.1:p.Ala464GlnfsTer?
NR_130776.1:n.354+19286del
NM_000439.5:c.1530del MANE Select	NP_000430.3:p.Ala511GlnfsTer?
NM_001177875.2:c.1389del	NP_001171346.1:p.Ala464GlnfsTer?