Canonical Allele Identifier: CA3350448

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96422011_96422019del , CM000667.2:g.96422011_96422019del	GRCh38
NC_000005.9:g.95757715_95757723del , CM000667.1:g.95757715_95757723del	GRCh37
NC_000005.8:g.95783471_95783479del	NCBI36
NG_021161.1:g.16280_16288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.544-46_544-38del MANE Select	ENSP00000308024.2:n.544-46_544-38del
ENST00000311106.7:c.544-46_544-38del	ENSP00000308024.2:n.544-46_544-38del
ENST00000508626.5:c.403-46_403-38del	ENSP00000421600.1:n.403-46_403-38del
NM_000439.4:c.544-46_544-38del	NP_000430.3:n.544-46_544-38del
NM_001177875.1:c.403-46_403-38del	NP_001171346.1:n.403-46_403-38del
NR_130776.1:n.354+42359_354+42367del
NM_000439.5:c.544-46_544-38del MANE Select	NP_000430.3:n.544-46_544-38del
NM_001177875.2:c.403-46_403-38del	NP_001171346.1:n.403-46_403-38del