Canonical Allele Identifier: CA523275564

Gene: PCSK9

Linked Data

• dbSNP Id: rs1305594977
• gnomAD v2: 1-55525137-CA-C
• gnomAD v3: 1-55059464-CA-C
• gnomAD v4: 1-55059464-CA-C
• MyVariant Identifiers: chr1:g.55525138del (hg19) ; chr1:g.55059465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059465del , CM000663.2:g.55059465del	GRCh38
NC_000001.10:g.55525138del , CM000663.1:g.55525138del	GRCh37
NC_000001.9:g.55297726del	NCBI36
NG_009061.1:g.24919del , LRG_275:g.24919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1504-21del	ENSP00000501161.2:n.1504-21del
ENST00000710286.1:c.1861-21del	ENSP00000518176.1:n.1861-21del
ENST00000673903.1:c.1129-21del	ENSP00000501257.1:n.1129-21del
ENST00000673913.1:c.244-21del	ENSP00000501161.1:n.244-21del
ENST00000302118.5:c.1504-21del MANE Select	ENSP00000303208.5:n.1504-21del
ENST00000490692.1:n.2227+818del
NM_174936.3:c.1504-21del , LRG_275t1:c.1504-21del	NP_777596.2:n.1504-21del
NR_110451.1:n.1111-21del
XM_011541193.1:c.625-21del	XP_011539495.1:n.625-21del
NM_174936.4:c.1504-21del MANE Select	NP_777596.2:n.1504-21del
NR_110451.2:n.1111-21del