Canonical Allele Identifier: CA1565418033

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429139_96429145delinsCTGTTTT , CM000667.2:g.96429139_96429145delinsCTGTTTT	GRCh38
NC_000005.9:g.95764843_95764849delinsCTGTTTT , CM000667.1:g.95764843_95764849delinsCTGTTTT	GRCh37
NC_000005.8:g.95790599_95790605delinsCTGTTTT	NCBI36
NG_021161.1:g.9137_9143delinsAAAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+68_285+74delinsAAAACAG MANE Select	ENSP00000308024.2:n.285+68_285+74delinsAAAACAG
ENST00000311106.7:c.285+68_285+74delinsAAAACAG	ENSP00000308024.2:n.285+68_285+74delinsAAAACAG
ENST00000508626.5:c.144+68_144+74delinsAAAACAG	ENSP00000421600.1:n.144+68_144+74delinsAAAACAG
ENST00000509190.1:c.285+68_285+74delinsAAAACAG	ENSP00000427294.1:n.285+68_285+74delinsAAAACAG
NM_000439.4:c.285+68_285+74delinsAAAACAG	NP_000430.3:n.285+68_285+74delinsAAAACAG
NM_001177875.1:c.144+68_144+74delinsAAAACAG	NP_001171346.1:n.144+68_144+74delinsAAAACAG
NR_130776.1:n.354+49487_354+49493delinsCTGTTTT
NM_000439.5:c.285+68_285+74delinsAAAACAG MANE Select	NP_000430.3:n.285+68_285+74delinsAAAACAG
NM_001177875.2:c.144+68_144+74delinsAAAACAG	NP_001171346.1:n.144+68_144+74delinsAAAACAG