Canonical Allele Identifier: CA1565418065

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429201_96429204delinsTACA , CM000667.2:g.96429201_96429204delinsTACA	GRCh38
NC_000005.9:g.95764905_95764908delinsTACA , CM000667.1:g.95764905_95764908delinsTACA	GRCh37
NC_000005.8:g.95790661_95790664delinsTACA	NCBI36
NG_021161.1:g.9078_9081delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+9_285+12delinsTGTA MANE Select	ENSP00000308024.2:n.285+9_285+12delinsTGTA
ENST00000311106.7:c.285+9_285+12delinsTGTA	ENSP00000308024.2:n.285+9_285+12delinsTGTA
ENST00000508626.5:c.144+9_144+12delinsTGTA	ENSP00000421600.1:n.144+9_144+12delinsTGTA
ENST00000509190.1:c.285+9_285+12delinsTGTA	ENSP00000427294.1:n.285+9_285+12delinsTGTA
NM_000439.4:c.285+9_285+12delinsTGTA	NP_000430.3:n.285+9_285+12delinsTGTA
NM_001177875.1:c.144+9_144+12delinsTGTA	NP_001171346.1:n.144+9_144+12delinsTGTA
NR_130776.1:n.354+49549_354+49552delinsTACA
NM_000439.5:c.285+9_285+12delinsTGTA MANE Select	NP_000430.3:n.285+9_285+12delinsTGTA
NM_001177875.2:c.144+9_144+12delinsTGTA	NP_001171346.1:n.144+9_144+12delinsTGTA