Canonical Allele Identifier: CA2767554350

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429116_96429119del , CM000667.2:g.96429116_96429119del	GRCh38
NC_000005.9:g.95764820_95764823del , CM000667.1:g.95764820_95764823del	GRCh37
NC_000005.8:g.95790576_95790579del	NCBI36
NG_021161.1:g.9169_9172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+100_285+103del MANE Select	ENSP00000308024.2:n.285+100_285+103del
ENST00000311106.7:c.285+100_285+103del	ENSP00000308024.2:n.285+100_285+103del
ENST00000508626.5:c.144+100_144+103del	ENSP00000421600.1:n.144+100_144+103del
ENST00000509190.1:c.285+100_285+103del	ENSP00000427294.1:n.285+100_285+103del
NM_000439.4:c.285+100_285+103del	NP_000430.3:n.285+100_285+103del
NM_001177875.1:c.144+100_144+103del	NP_001171346.1:n.144+100_144+103del
NR_130776.1:n.354+49464_354+49467del
NM_000439.5:c.285+100_285+103del MANE Select	NP_000430.3:n.285+100_285+103del
NM_001177875.2:c.144+100_144+103del	NP_001171346.1:n.144+100_144+103del