Canonical Allele Identifier: CA1167986677

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644781538
• gnomAD v4: 1-55063835-CCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063838_55063841del , CM000663.2:g.55063838_55063841del	GRCh38
NC_000001.10:g.55529511_55529514del , CM000663.1:g.55529511_55529514del	GRCh37
NC_000001.9:g.55302099_55302102del	NCBI36
NG_009061.1:g.29292_29295del , LRG_275:g.29292_29295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*673_*676del	ENSP00000501161.2:n.*673_*676del
ENST00000710286.1:c.*254_*257del	ENSP00000518176.1:n.*254_*257del
ENST00000673903.1:c.*254_*257del	ENSP00000501257.1:n.*254_*257del
ENST00000302118.5:c.*254_*257del MANE Select	ENSP00000303208.5:n.*254_*257del
ENST00000490692.1:n.2879_2882del
NM_174936.3:c.*254_*257del , LRG_275t1:c.*254_*257del	NP_777596.2:n.*254_*257del
NR_110451.1:n.1940_1943del
XM_011541193.1:c.*254_*257del	XP_011539495.1:n.*254_*257del
NM_174936.4:c.*254_*257del MANE Select	NP_777596.2:n.*254_*257del
NR_110451.2:n.1940_1943del