Canonical Allele Identifier: CA2542846707

Gene: PCSK9

Linked Data

• gnomAD v3: 1-55053027-ACC-A
• gnomAD v4: 1-55053027-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053029_55053030del , CM000663.2:g.55053029_55053030del	GRCh38
NC_000001.10:g.55518702_55518703del , CM000663.1:g.55518702_55518703del	GRCh37
NC_000001.9:g.55291290_55291291del	NCBI36
NG_009061.1:g.18483_18484del , LRG_275:g.18483_18484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+238_799+239del	ENSP00000501161.2:n.799+238_799+239del
ENST00000710286.1:c.1156+238_1156+239del	ENSP00000518176.1:n.1156+238_1156+239del
ENST00000673903.1:c.424+238_424+239del	ENSP00000501257.1:n.424+238_424+239del
ENST00000302118.5:c.799+238_799+239del MANE Select	ENSP00000303208.5:n.799+238_799+239del
ENST00000490692.1:n.1620+238_1620+239del
NM_174936.3:c.799+238_799+239del , LRG_275t1:c.799+238_799+239del	NP_777596.2:n.799+238_799+239del
NR_110451.1:n.458+238_458+239del
NM_174936.4:c.799+238_799+239del MANE Select	NP_777596.2:n.799+238_799+239del
NR_110451.2:n.458+238_458+239del