Canonical Allele Identifier: CA2645837985

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043986-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043991_55043993del , CM000663.2:g.55043991_55043993del	GRCh38
NC_000001.10:g.55509664_55509666del , CM000663.1:g.55509664_55509666del	GRCh37
NC_000001.9:g.55282252_55282254del	NCBI36
NG_009061.1:g.9445_9447del , LRG_275:g.9445_9447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.356_358del	ENSP00000501161.2:p.Leu119del
ENST00000710286.1:c.713_715del	ENSP00000518176.1:p.Leu238del
ENST00000673662.1:n.26_28del
ENST00000673726.1:c.356_358del	ENSP00000501004.1:p.Leu119del
ENST00000673903.1:c.-20_-18del	ENSP00000501257.1:n.-20_-18del
ENST00000302118.5:c.356_358del MANE Select	ENSP00000303208.5:p.Leu119del
NM_174936.3:c.356_358del , LRG_275t1:c.356_358del	NP_777596.2:p.Leu119del
NR_110451.1:n.182+3588_182+3590del
NM_174936.4:c.356_358del MANE Select	NP_777596.2:p.Leu119del
NR_110451.2:n.182+3588_182+3590del