Canonical Allele Identifier: CA2578366370

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429144_96429149del , CM000667.2:g.96429144_96429149del	GRCh38
NC_000005.9:g.95764848_95764853del , CM000667.1:g.95764848_95764853del	GRCh37
NC_000005.8:g.95790604_95790609del	NCBI36
NG_021161.1:g.9135_9140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+66_285+71del MANE Select	ENSP00000308024.2:n.285+66_285+71del
ENST00000311106.7:c.285+66_285+71del	ENSP00000308024.2:n.285+66_285+71del
ENST00000508626.5:c.144+66_144+71del	ENSP00000421600.1:n.144+66_144+71del
ENST00000509190.1:c.285+66_285+71del	ENSP00000427294.1:n.285+66_285+71del
NM_000439.4:c.285+66_285+71del	NP_000430.3:n.285+66_285+71del
NM_001177875.1:c.144+66_144+71del	NP_001171346.1:n.144+66_144+71del
NR_130776.1:n.354+49492_354+49497del
NM_000439.5:c.285+66_285+71del MANE Select	NP_000430.3:n.285+66_285+71del
NM_001177875.2:c.144+66_144+71del	NP_001171346.1:n.144+66_144+71del