Canonical Allele Identifier: CA22760837

Gene: PCSK9

Linked Data

• dbSNP Id: rs750013234
• MyVariant Identifiers: chr1:g.55518757_55518764del (hg19) ; chr1:g.55053084_55053091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053092_55053099del , CM000663.2:g.55053092_55053099del	GRCh38
NC_000001.10:g.55518765_55518772del , CM000663.1:g.55518765_55518772del	GRCh37
NC_000001.9:g.55291353_55291360del	NCBI36
NG_009061.1:g.18546_18553del , LRG_275:g.18546_18553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+301_799+308del	ENSP00000501161.2:n.799+301_799+308del
ENST00000710286.1:c.1156+301_1156+308del	ENSP00000518176.1:n.1156+301_1156+308del
ENST00000673903.1:c.424+301_424+308del	ENSP00000501257.1:n.424+301_424+308del
ENST00000302118.5:c.799+301_799+308del MANE Select	ENSP00000303208.5:n.799+301_799+308del
ENST00000490692.1:n.1620+301_1620+308del
NM_174936.3:c.799+301_799+308del , LRG_275t1:c.799+301_799+308del	NP_777596.2:n.799+301_799+308del
NR_110451.1:n.458+301_458+308del
NM_174936.4:c.799+301_799+308del MANE Select	NP_777596.2:n.799+301_799+308del
NR_110451.2:n.458+301_458+308del