Canonical Allele Identifier: CA2743687288

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059765_55059766del , CM000663.2:g.55059765_55059766del	GRCh38
NC_000001.10:g.55525438_55525439del , CM000663.1:g.55525438_55525439del	GRCh37
NC_000001.9:g.55298026_55298027del	NCBI36
NG_009061.1:g.25219_25220del , LRG_275:g.25219_25220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+102_1681+103del	ENSP00000501161.2:n.1681+102_1681+103del
ENST00000710286.1:c.2038+102_2038+103del	ENSP00000518176.1:n.2038+102_2038+103del
ENST00000673903.1:c.1306+102_1306+103del	ENSP00000501257.1:n.1306+102_1306+103del
ENST00000673913.1:c.421+102_421+103del	ENSP00000501161.1:n.421+102_421+103del
ENST00000302118.5:c.1681+102_1681+103del MANE Select	ENSP00000303208.5:n.1681+102_1681+103del
ENST00000490692.1:n.2227+1118_2227+1119del
NM_174936.3:c.1681+102_1681+103del , LRG_275t1:c.1681+102_1681+103del	NP_777596.2:n.1681+102_1681+103del
NR_110451.1:n.1288+102_1288+103del
XM_011541193.1:c.802+102_802+103del	XP_011539495.1:n.802+102_802+103del
NM_174936.4:c.1681+102_1681+103del MANE Select	NP_777596.2:n.1681+102_1681+103del
NR_110451.2:n.1288+102_1288+103del