Canonical Allele Identifier: CA2645841744

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059790-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059792del , CM000663.2:g.55059792del	GRCh38
NC_000001.10:g.55525465del , CM000663.1:g.55525465del	GRCh37
NC_000001.9:g.55298053del	NCBI36
NG_009061.1:g.25246del , LRG_275:g.25246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+129del	ENSP00000501161.2:n.1681+129del
ENST00000710286.1:c.2038+129del	ENSP00000518176.1:n.2038+129del
ENST00000673903.1:c.1306+129del	ENSP00000501257.1:n.1306+129del
ENST00000673913.1:c.421+129del	ENSP00000501161.1:n.421+129del
ENST00000302118.5:c.1681+129del MANE Select	ENSP00000303208.5:n.1681+129del
ENST00000490692.1:n.2227+1145del
NM_174936.3:c.1681+129del , LRG_275t1:c.1681+129del	NP_777596.2:n.1681+129del
NR_110451.1:n.1288+129del
XM_011541193.1:c.802+129del	XP_011539495.1:n.802+129del
NM_174936.4:c.1681+129del MANE Select	NP_777596.2:n.1681+129del
NR_110451.2:n.1288+129del