Canonical Allele Identifier: CA1565418018

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429109_96429111delinsTAA , CM000667.2:g.96429109_96429111delinsTAA	GRCh38
NC_000005.9:g.95764813_95764815delinsTAA , CM000667.1:g.95764813_95764815delinsTAA	GRCh37
NC_000005.8:g.95790569_95790571delinsTAA	NCBI36
NG_021161.1:g.9171_9173delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+102_285+104delinsTTA MANE Select	ENSP00000308024.2:n.285+102_285+104delinsTTA
ENST00000311106.7:c.285+102_285+104delinsTTA	ENSP00000308024.2:n.285+102_285+104delinsTTA
ENST00000508626.5:c.144+102_144+104delinsTTA	ENSP00000421600.1:n.144+102_144+104delinsTTA
ENST00000509190.1:c.285+102_285+104delinsTTA	ENSP00000427294.1:n.285+102_285+104delinsTTA
NM_000439.4:c.285+102_285+104delinsTTA	NP_000430.3:n.285+102_285+104delinsTTA
NM_001177875.1:c.144+102_144+104delinsTTA	NP_001171346.1:n.144+102_144+104delinsTTA
NR_130776.1:n.354+49457_354+49459delinsTAA
NM_000439.5:c.285+102_285+104delinsTTA MANE Select	NP_000430.3:n.285+102_285+104delinsTTA
NM_001177875.2:c.144+102_144+104delinsTTA	NP_001171346.1:n.144+102_144+104delinsTTA