Canonical Allele Identifier: CA2586966704

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061473-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061475del , CM000663.2:g.55061475del	GRCh38
NC_000001.10:g.55527148del , CM000663.1:g.55527148del	GRCh37
NC_000001.9:g.55299736del	NCBI36
NG_009061.1:g.26929del , LRG_275:g.26929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*122del	ENSP00000501161.2:n.*122del
ENST00000710286.1:c.2139del	ENSP00000518176.1:p.Ser714AlafsTer28
ENST00000673903.1:c.1407del	ENSP00000501257.1:p.Ser470AlafsTer28
ENST00000673913.1:c.632del	ENSP00000501161.1:n.632del
ENST00000302118.5:c.1782del MANE Select	ENSP00000303208.5:p.Ser595AlafsTer28
ENST00000490692.1:n.2328del
NM_174936.3:c.1782del , LRG_275t1:c.1782del	NP_777596.2:p.Ser595AlafsTer28
NR_110451.1:n.1389del
XM_011541193.1:c.903del	XP_011539495.1:p.Ser302AlafsTer28
NM_174936.4:c.1782del MANE Select	NP_777596.2:p.Ser595AlafsTer28
NR_110451.2:n.1389del