Canonical Allele Identifier: CA2743686126

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059619del , CM000663.2:g.55059619del	GRCh38
NC_000001.10:g.55525292del , CM000663.1:g.55525292del	GRCh37
NC_000001.9:g.55297880del	NCBI36
NG_009061.1:g.25073del , LRG_275:g.25073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1637del	ENSP00000501161.2:p.Met546ArgfsTer18
ENST00000710286.1:c.1994del	ENSP00000518176.1:p.Met665ArgfsTer?
ENST00000673903.1:c.1262del	ENSP00000501257.1:p.Met421ArgfsTer?
ENST00000673913.1:c.377del	ENSP00000501161.1:p.Met126ArgfsTer18
ENST00000302118.5:c.1637del MANE Select	ENSP00000303208.5:p.Met546ArgfsTer?
ENST00000490692.1:n.2227+972del
NM_174936.3:c.1637del , LRG_275t1:c.1637del	NP_777596.2:p.Met546ArgfsTer?
NR_110451.1:n.1244del
XM_011541193.1:c.758del	XP_011539495.1:p.Met253ArgfsTer?
NM_174936.4:c.1637del MANE Select	NP_777596.2:p.Met546ArgfsTer?
NR_110451.2:n.1244del