Canonical Allele Identifier: CA2645841842

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059811-C-CAAAGGGCATGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059811_55059812insAAAGGGCATGGAAG , CM000663.2:g.55059811_55059812insAAAGGGCATGGAAG	GRCh38
NC_000001.10:g.55525484_55525485insAAAGGGCATGGAAG , CM000663.1:g.55525484_55525485insAAAGGGCATGGAAG	GRCh37
NC_000001.9:g.55298072_55298073insAAAGGGCATGGAAG	NCBI36
NG_009061.1:g.25265_25266insAAAGGGCATGGAAG , LRG_275:g.25265_25266insAAAGGGCATGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+148_1681+149insAAAGGGCATGGAAG	ENSP00000501161.2:n.1681+148_1681+149insAAAGGGCATGGAAG
ENST00000710286.1:c.2038+148_2038+149insAAAGGGCATGGAAG	ENSP00000518176.1:n.2038+148_2038+149insAAAGGGCATGGAAG
ENST00000673903.1:c.1306+148_1306+149insAAAGGGCATGGAAG	ENSP00000501257.1:n.1306+148_1306+149insAAAGGGCATGGAAG
ENST00000673913.1:c.421+148_421+149insAAAGGGCATGGAAG	ENSP00000501161.1:n.421+148_421+149insAAAGGGCATGGAAG
ENST00000302118.5:c.1681+148_1681+149insAAAGGGCATGGAAG MANE Select	ENSP00000303208.5:n.1681+148_1681+149insAAAGGGCATGGAAG
ENST00000490692.1:n.2227+1164_2227+1165insAAAGGGCATGGAAG
NM_174936.3:c.1681+148_1681+149insAAAGGGCATGGAAG , LRG_275t1:c.1681+148_1681+149insAAAGGGCATGGAAG	NP_777596.2:n.1681+148_1681+149insAAAGGGCATGGAAG
NR_110451.1:n.1288+148_1288+149insAAAGGGCATGGAAG
XM_011541193.1:c.802+148_802+149insAAAGGGCATGGAAG	XP_011539495.1:n.802+148_802+149insAAAGGGCATGGAAG
NM_174936.4:c.1681+148_1681+149insAAAGGGCATGGAAG MANE Select	NP_777596.2:n.1681+148_1681+149insAAAGGGCATGGAAG
NR_110451.2:n.1288+148_1288+149insAAAGGGCATGGAAG