Canonical Allele Identifier: CA523275527

Gene: PCSK9

Linked Data

• dbSNP Id: rs1472354396
• gnomAD v2: 1-55525511-TCTC-T
• gnomAD v3: 1-55059838-TCTC-T
• gnomAD v4: 1-55059838-TCTC-T
• MyVariant Identifiers: chr1:g.55525512_55525514del (hg19) ; chr1:g.55059839_55059841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059842_55059844del , CM000663.2:g.55059842_55059844del	GRCh38
NC_000001.10:g.55525515_55525517del , CM000663.1:g.55525515_55525517del	GRCh37
NC_000001.9:g.55298103_55298105del	NCBI36
NG_009061.1:g.25296_25298del , LRG_275:g.25296_25298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+179_1681+181del	ENSP00000501161.2:n.1681+179_1681+181del
ENST00000710286.1:c.2038+179_2038+181del	ENSP00000518176.1:n.2038+179_2038+181del
ENST00000673903.1:c.1306+179_1306+181del	ENSP00000501257.1:n.1306+179_1306+181del
ENST00000673913.1:c.421+179_421+181del	ENSP00000501161.1:n.421+179_421+181del
ENST00000302118.5:c.1681+179_1681+181del MANE Select	ENSP00000303208.5:n.1681+179_1681+181del
ENST00000490692.1:n.2227+1195_2227+1197del
NM_174936.3:c.1681+179_1681+181del , LRG_275t1:c.1681+179_1681+181del	NP_777596.2:n.1681+179_1681+181del
NR_110451.1:n.1288+179_1288+181del
XM_011541193.1:c.802+179_802+181del	XP_011539495.1:n.802+179_802+181del
NM_174936.4:c.1681+179_1681+181del MANE Select	NP_777596.2:n.1681+179_1681+181del
NR_110451.2:n.1288+179_1288+181del