Canonical Allele Identifier: CA523275581

Gene: PCSK9

Linked Data

• dbSNP Id: rs1468433679
• gnomAD v2: 1-55525367-AG-A
• MyVariant Identifiers: chr1:g.55525368del (hg19) ; chr1:g.55059695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059698del , CM000663.2:g.55059698del	GRCh38
NC_000001.10:g.55525371del , CM000663.1:g.55525371del	GRCh37
NC_000001.9:g.55297959del	NCBI36
NG_009061.1:g.25152del , LRG_275:g.25152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+35del	ENSP00000501161.2:n.1681+35del
ENST00000710286.1:c.2038+35del	ENSP00000518176.1:n.2038+35del
ENST00000673903.1:c.1306+35del	ENSP00000501257.1:n.1306+35del
ENST00000673913.1:c.421+35del	ENSP00000501161.1:n.421+35del
ENST00000302118.5:c.1681+35del MANE Select	ENSP00000303208.5:n.1681+35del
ENST00000490692.1:n.2227+1051del
NM_174936.3:c.1681+35del , LRG_275t1:c.1681+35del	NP_777596.2:n.1681+35del
NR_110451.1:n.1288+35del
XM_011541193.1:c.802+35del	XP_011539495.1:n.802+35del
NM_174936.4:c.1681+35del MANE Select	NP_777596.2:n.1681+35del
NR_110451.2:n.1288+35del