Canonical Allele Identifier: CA1565418036

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429151_96429153delinsGAA , CM000667.2:g.96429151_96429153delinsGAA	GRCh38
NC_000005.9:g.95764855_95764857delinsGAA , CM000667.1:g.95764855_95764857delinsGAA	GRCh37
NC_000005.8:g.95790611_95790613delinsGAA	NCBI36
NG_021161.1:g.9129_9131delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+60_285+62delinsTTC MANE Select	ENSP00000308024.2:n.285+60_285+62delinsTTC
ENST00000311106.7:c.285+60_285+62delinsTTC	ENSP00000308024.2:n.285+60_285+62delinsTTC
ENST00000508626.5:c.144+60_144+62delinsTTC	ENSP00000421600.1:n.144+60_144+62delinsTTC
ENST00000509190.1:c.285+60_285+62delinsTTC	ENSP00000427294.1:n.285+60_285+62delinsTTC
NM_000439.4:c.285+60_285+62delinsTTC	NP_000430.3:n.285+60_285+62delinsTTC
NM_001177875.1:c.144+60_144+62delinsTTC	NP_001171346.1:n.144+60_144+62delinsTTC
NR_130776.1:n.354+49499_354+49501delinsGAA
NM_000439.5:c.285+60_285+62delinsTTC MANE Select	NP_000430.3:n.285+60_285+62delinsTTC
NM_001177875.2:c.144+60_144+62delinsTTC	NP_001171346.1:n.144+60_144+62delinsTTC