Canonical Allele Identifier: CA2674665191

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399071-ATATCCAAACTTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399073_96399085del , CM000667.2:g.96399073_96399085del	GRCh38
NC_000005.9:g.95734777_95734789del , CM000667.1:g.95734777_95734789del	GRCh37
NC_000005.8:g.95760533_95760545del	NCBI36
NG_021161.1:g.39198_39210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-48_1431-36del MANE Select	ENSP00000308024.2:n.1431-48_1431-36del
ENST00000311106.7:c.1431-48_1431-36del	ENSP00000308024.2:n.1431-48_1431-36del
ENST00000508626.5:c.1290-48_1290-36del	ENSP00000421600.1:n.1290-48_1290-36del
ENST00000513085.1:n.574-48_574-36del
NM_000439.4:c.1431-48_1431-36del	NP_000430.3:n.1431-48_1431-36del
NM_001177875.1:c.1290-48_1290-36del	NP_001171346.1:n.1290-48_1290-36del
NR_130776.1:n.354+19421_354+19433del
NM_000439.5:c.1431-48_1431-36del MANE Select	NP_000430.3:n.1431-48_1431-36del
NM_001177875.2:c.1290-48_1290-36del	NP_001171346.1:n.1290-48_1290-36del