Canonical Allele Identifier: CA523275595

Gene: PCSK9

Linked Data

• dbSNP Id: rs1386405668
• gnomAD v2: 1-55529079-GCTGCAGTGCC-G
• gnomAD v4: 1-55063406-GCTGCAGTGCC-G
• MyVariant Identifiers: chr1:g.55529080_55529089del (hg19) ; chr1:g.55063407_55063416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063409_55063418del , CM000663.2:g.55063409_55063418del	GRCh38
NC_000001.10:g.55529082_55529091del , CM000663.1:g.55529082_55529091del	GRCh37
NC_000001.9:g.55301670_55301679del	NCBI36
NG_009061.1:g.28863_28872del , LRG_275:g.28863_28872del

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.*244_*253del	ENSP00000501161.2:n.*244_*253del
ENST00000710286.1:c.2261_2270del	ENSP00000518176.1:p.Cys754SerfsTer13
ENST00000673903.1:c.1529_1538del	ENSP00000501257.1:p.Cys510SerfsTer13
ENST00000673913.1:c.754_763del	ENSP00000501161.1:n.754_763del
ENST00000302118.5:c.1904_1913del MANE Select	ENSP00000303208.5:p.Cys635SerfsTer13
ENST00000490692.1:n.2450_2459del
NM_174936.3:c.1904_1913del , LRG_275t1:c.1904_1913del	NP_777596.2:p.Cys635SerfsTer13
NR_110451.1:n.1511_1520del
XM_011541193.1:c.1025_1034del	XP_011539495.1:p.Cys342SerfsTer13
NM_174936.4:c.1904_1913del MANE Select	NP_777596.2:p.Cys635SerfsTer13
NR_110451.2:n.1511_1520del