Canonical Allele Identifier: CA2645842473

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061492-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061493del , CM000663.2:g.55061493del	GRCh38
NC_000001.10:g.55527166del , CM000663.1:g.55527166del	GRCh37
NC_000001.9:g.55299754del	NCBI36
NG_009061.1:g.26947del , LRG_275:g.26947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*140del	ENSP00000501161.2:n.*140del
ENST00000710286.1:c.2157del	ENSP00000518176.1:p.Cys720AlafsTer22
ENST00000673903.1:c.1425del	ENSP00000501257.1:p.Cys476AlafsTer22
ENST00000673913.1:c.650del	ENSP00000501161.1:n.650del
ENST00000302118.5:c.1800del MANE Select	ENSP00000303208.5:p.Cys601AlafsTer22
ENST00000490692.1:n.2346del
NM_174936.3:c.1800del , LRG_275t1:c.1800del	NP_777596.2:p.Cys601AlafsTer22
NR_110451.1:n.1407del
XM_011541193.1:c.921del	XP_011539495.1:p.Cys308AlafsTer22
NM_174936.4:c.1800del MANE Select	NP_777596.2:p.Cys601AlafsTer22
NR_110451.2:n.1407del