Canonical Allele Identifier: CA522961594

Gene: PCSK9

Linked Data

• dbSNP Id: rs1198998812
• gnomAD v2: 1-55529447-GGGTGCCTCCTCCCCAGGTGGA-G
• gnomAD v3: 1-55063774-GGGTGCCTCCTCCCCAGGTGGA-G
• gnomAD v4: 1-55063774-GGGTGCCTCCTCCCCAGGTGGA-G
• MyVariant Identifiers: chr1:g.55529448_55529468del (hg19) ; chr1:g.55063775_55063795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063781_55063801del , CM000663.2:g.55063781_55063801del	GRCh38
NC_000001.10:g.55529454_55529474del , CM000663.1:g.55529454_55529474del	GRCh37
NC_000001.9:g.55302042_55302062del	NCBI36
NG_009061.1:g.29235_29255del , LRG_275:g.29235_29255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*616_*636del	ENSP00000501161.2:n.*616_*636del
ENST00000710286.1:c.*197_*217del	ENSP00000518176.1:n.*197_*217del
ENST00000673903.1:c.*197_*217del	ENSP00000501257.1:n.*197_*217del
ENST00000302118.5:c.*197_*217del MANE Select	ENSP00000303208.5:n.*197_*217del
ENST00000490692.1:n.2822_2842del
NM_174936.3:c.*197_*217del , LRG_275t1:c.*197_*217del	NP_777596.2:n.*197_*217del
NR_110451.1:n.1883_1903del
XM_011541193.1:c.*197_*217del	XP_011539495.1:n.*197_*217del
NM_174936.4:c.*197_*217del MANE Select	NP_777596.2:n.*197_*217del
NR_110451.2:n.1883_1903del