Canonical Allele Identifier: CA2645840732

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063745-A-AGTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063746_55063747insTGGGG , CM000663.2:g.55063746_55063747insTGGGG	GRCh38
NC_000001.10:g.55529419_55529420insTGGGG , CM000663.1:g.55529419_55529420insTGGGG	GRCh37
NC_000001.9:g.55302007_55302008insTGGGG	NCBI36
NG_009061.1:g.29200_29201insTGGGG , LRG_275:g.29200_29201insTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*581_*582insTGGGG	ENSP00000501161.2:n.*581_*582insTGGGG
ENST00000710286.1:c.*162_*163insTGGGG	ENSP00000518176.1:n.*162_*163insTGGGG
ENST00000673903.1:c.*162_*163insTGGGG	ENSP00000501257.1:n.*162_*163insTGGGG
ENST00000302118.5:c.*162_*163insTGGGG MANE Select	ENSP00000303208.5:n.*162_*163insTGGGG
ENST00000490692.1:n.2787_2788insTGGGG
NM_174936.3:c.*162_*163insTGGGG , LRG_275t1:c.*162_*163insTGGGG	NP_777596.2:n.*162_*163insTGGGG
NR_110451.1:n.1848_1849insTGGGG
XM_011541193.1:c.*162_*163insTGGGG	XP_011539495.1:n.*162_*163insTGGGG
NM_174936.4:c.*162_*163insTGGGG MANE Select	NP_777596.2:n.*162_*163insTGGGG
NR_110451.2:n.1848_1849insTGGGG