Canonical Allele Identifier: CA2674665223

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399112-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399112_96399113insT , CM000667.2:g.96399112_96399113insT	GRCh38
NC_000005.9:g.95734816_95734817insT , CM000667.1:g.95734816_95734817insT	GRCh37
NC_000005.8:g.95760572_95760573insT	NCBI36
NG_021161.1:g.39169_39170insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-77_1431-76insA MANE Select	ENSP00000308024.2:n.1431-77_1431-76insA
ENST00000311106.7:c.1431-77_1431-76insA	ENSP00000308024.2:n.1431-77_1431-76insA
ENST00000508626.5:c.1290-77_1290-76insA	ENSP00000421600.1:n.1290-77_1290-76insA
ENST00000513085.1:n.574-77_574-76insA
NM_000439.4:c.1431-77_1431-76insA	NP_000430.3:n.1431-77_1431-76insA
NM_001177875.1:c.1290-77_1290-76insA	NP_001171346.1:n.1290-77_1290-76insA
NR_130776.1:n.354+19460_354+19461insT
NM_000439.5:c.1431-77_1431-76insA MANE Select	NP_000430.3:n.1431-77_1431-76insA
NM_001177875.2:c.1290-77_1290-76insA	NP_001171346.1:n.1290-77_1290-76insA