Canonical Allele Identifier: CA2645840500

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063646-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063647_55063649del , CM000663.2:g.55063647_55063649del	GRCh38
NC_000001.10:g.55529320_55529322del , CM000663.1:g.55529320_55529322del	GRCh37
NC_000001.9:g.55301908_55301910del	NCBI36
NG_009061.1:g.29101_29103del , LRG_275:g.29101_29103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*482_*484del	ENSP00000501161.2:n.*482_*484del
ENST00000710286.1:c.*63_*65del	ENSP00000518176.1:n.*63_*65del
ENST00000673903.1:c.*63_*65del	ENSP00000501257.1:n.*63_*65del
ENST00000302118.5:c.*63_*65del MANE Select	ENSP00000303208.5:n.*63_*65del
ENST00000490692.1:n.2688_2690del
NM_174936.3:c.*63_*65del , LRG_275t1:c.*63_*65del	NP_777596.2:n.*63_*65del
NR_110451.1:n.1749_1751del
XM_011541193.1:c.*63_*65del	XP_011539495.1:n.*63_*65del
NM_174936.4:c.*63_*65del MANE Select	NP_777596.2:n.*63_*65del
NR_110451.2:n.1749_1751del