Canonical Allele Identifier: CA523275580

Gene: PCSK9

Linked Data

• dbSNP Id: rs1489793999
• gnomAD v2: 1-55525364-A-AGGAGG
• gnomAD v3: 1-55059691-A-AGGAGG
• gnomAD v4: 1-55059691-A-AGGAGG
• MyVariant Identifiers: chr1:g.55525364_55525365insGGAGG (hg19) ; chr1:g.55059691_55059692insGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059694_55059698dup , CM000663.2:g.55059694_55059698dup	GRCh38
NC_000001.10:g.55525367_55525371dup , CM000663.1:g.55525367_55525371dup	GRCh37
NC_000001.9:g.55297955_55297959dup	NCBI36
NG_009061.1:g.25148_25152dup , LRG_275:g.25148_25152dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+31_1681+35dup	ENSP00000501161.2:n.1681+31_1681+35dup
ENST00000710286.1:c.2038+31_2038+35dup	ENSP00000518176.1:n.2038+31_2038+35dup
ENST00000673903.1:c.1306+31_1306+35dup	ENSP00000501257.1:n.1306+31_1306+35dup
ENST00000673913.1:c.421+31_421+35dup	ENSP00000501161.1:n.421+31_421+35dup
ENST00000302118.5:c.1681+31_1681+35dup MANE Select	ENSP00000303208.5:n.1681+31_1681+35dup
ENST00000490692.1:n.2227+1047_2227+1051dup
NM_174936.3:c.1681+31_1681+35dup , LRG_275t1:c.1681+31_1681+35dup	NP_777596.2:n.1681+31_1681+35dup
NR_110451.1:n.1288+31_1288+35dup
XM_011541193.1:c.802+31_802+35dup	XP_011539495.1:n.802+31_802+35dup
NM_174936.4:c.1681+31_1681+35dup MANE Select	NP_777596.2:n.1681+31_1681+35dup
NR_110451.2:n.1288+31_1288+35dup