Canonical Allele Identifier: CA1565404448

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399058_96399059delinsCA , CM000667.2:g.96399058_96399059delinsCA	GRCh38
NC_000005.9:g.95734762_95734763delinsCA , CM000667.1:g.95734762_95734763delinsCA	GRCh37
NC_000005.8:g.95760518_95760519delinsCA	NCBI36
NG_021161.1:g.39223_39224delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-23_1431-22delinsTG MANE Select	ENSP00000308024.2:n.1431-23_1431-22delinsTG
ENST00000311106.7:c.1431-23_1431-22delinsTG	ENSP00000308024.2:n.1431-23_1431-22delinsTG
ENST00000508626.5:c.1290-23_1290-22delinsTG	ENSP00000421600.1:n.1290-23_1290-22delinsTG
ENST00000513085.1:n.574-23_574-22delinsTG
NM_000439.4:c.1431-23_1431-22delinsTG	NP_000430.3:n.1431-23_1431-22delinsTG
NM_001177875.1:c.1290-23_1290-22delinsTG	NP_001171346.1:n.1290-23_1290-22delinsTG
NR_130776.1:n.354+19406_354+19407delinsCA
NM_000439.5:c.1431-23_1431-22delinsTG MANE Select	NP_000430.3:n.1431-23_1431-22delinsTG
NM_001177875.2:c.1290-23_1290-22delinsTG	NP_001171346.1:n.1290-23_1290-22delinsTG