Canonical Allele Identifier: CA2645842980

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061683-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061686del , CM000663.2:g.55061686del	GRCh38
NC_000001.10:g.55527359del , CM000663.1:g.55527359del	GRCh37
NC_000001.9:g.55299947del	NCBI36
NG_009061.1:g.27140del , LRG_275:g.27140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*203+130del	ENSP00000501161.2:n.*203+130del
ENST00000710286.1:c.2220+130del	ENSP00000518176.1:n.2220+130del
ENST00000673903.1:c.1488+130del	ENSP00000501257.1:n.1488+130del
ENST00000673913.1:c.713+130del	ENSP00000501161.1:n.713+130del
ENST00000302118.5:c.1863+130del MANE Select	ENSP00000303208.5:n.1863+130del
ENST00000490692.1:n.2409+130del
NM_174936.3:c.1863+130del , LRG_275t1:c.1863+130del	NP_777596.2:n.1863+130del
NR_110451.1:n.1470+130del
XM_011541193.1:c.984+130del	XP_011539495.1:n.984+130del
NM_174936.4:c.1863+130del MANE Select	NP_777596.2:n.1863+130del
NR_110451.2:n.1470+130del