Canonical Allele Identifier: CA2507210561

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429036_96429038dup , CM000667.2:g.96429036_96429038dup	GRCh38
NC_000005.9:g.95764740_95764742dup , CM000667.1:g.95764740_95764742dup	GRCh37
NC_000005.8:g.95790496_95790498dup	NCBI36
NG_021161.1:g.9246_9248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+177_285+179dup MANE Select	ENSP00000308024.2:n.285+177_285+179dup
ENST00000311106.7:c.285+177_285+179dup	ENSP00000308024.2:n.285+177_285+179dup
ENST00000508626.5:c.144+177_144+179dup	ENSP00000421600.1:n.144+177_144+179dup
ENST00000509190.1:c.285+177_285+179dup	ENSP00000427294.1:n.285+177_285+179dup
NM_000439.4:c.285+177_285+179dup	NP_000430.3:n.285+177_285+179dup
NM_001177875.1:c.144+177_144+179dup	NP_001171346.1:n.144+177_144+179dup
NR_130776.1:n.354+49384_354+49386dup
NM_000439.5:c.285+177_285+179dup MANE Select	NP_000430.3:n.285+177_285+179dup
NM_001177875.2:c.144+177_144+179dup	NP_001171346.1:n.144+177_144+179dup