Canonical Allele Identifier: CA2674667203

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429276-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429281del , CM000667.2:g.96429281del	GRCh38
NC_000005.9:g.95764985del , CM000667.1:g.95764985del	GRCh37
NC_000005.8:g.95790741del	NCBI36
NG_021161.1:g.9005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.221del MANE Select	ENSP00000308024.2:p.Asn74ThrfsTer23
ENST00000311106.7:c.221del	ENSP00000308024.2:p.Asn74ThrfsTer23
ENST00000508626.5:c.80del	ENSP00000421600.1:p.Asn27ThrfsTer23
ENST00000509190.1:c.221del	ENSP00000427294.1:p.Asn74ThrfsTer23
NM_000439.4:c.221del	NP_000430.3:p.Asn74ThrfsTer23
NM_001177875.1:c.80del	NP_001171346.1:p.Asn27ThrfsTer23
NR_130776.1:n.354+49629del
NM_000439.5:c.221del MANE Select	NP_000430.3:p.Asn74ThrfsTer23
NM_001177875.2:c.80del	NP_001171346.1:p.Asn27ThrfsTer23