Canonical Allele Identifier: CA736997957

Gene: PCSK9

Linked Data

• dbSNP Id: rs1294346058
• MyVariant Identifiers: chr1:g.55518702_55518704del (hg19) ; chr1:g.55053029_55053031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55053029_55053031del , CM000663.2:g.55053029_55053031del	GRCh38
NC_000001.10:g.55518702_55518704del , CM000663.1:g.55518702_55518704del	GRCh37
NC_000001.9:g.55291290_55291292del	NCBI36
NG_009061.1:g.18483_18485del , LRG_275:g.18483_18485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.799+238_799+240del	ENSP00000501161.2:n.799+238_799+240del
ENST00000710286.1:c.1156+238_1156+240del	ENSP00000518176.1:n.1156+238_1156+240del
ENST00000673903.1:c.424+238_424+240del	ENSP00000501257.1:n.424+238_424+240del
ENST00000302118.5:c.799+238_799+240del MANE Select	ENSP00000303208.5:n.799+238_799+240del
ENST00000490692.1:n.1620+238_1620+240del
NM_174936.3:c.799+238_799+240del , LRG_275t1:c.799+238_799+240del	NP_777596.2:n.799+238_799+240del
NR_110451.1:n.458+238_458+240del
NM_174936.4:c.799+238_799+240del MANE Select	NP_777596.2:n.799+238_799+240del
NR_110451.2:n.458+238_458+240del