Canonical Allele Identifier: CA2645837984

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55043975-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043976del , CM000663.2:g.55043976del	GRCh38
NC_000001.10:g.55509649del , CM000663.1:g.55509649del	GRCh37
NC_000001.9:g.55282237del	NCBI36
NG_009061.1:g.9430del , LRG_275:g.9430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.341del	ENSP00000501161.2:p.Val114AlafsTer11
ENST00000710286.1:c.698del	ENSP00000518176.1:p.Val233AlafsTer11
ENST00000673662.1:n.11del
ENST00000673726.1:c.341del	ENSP00000501004.1:p.Val114AlafsTer11
ENST00000673903.1:c.-35del	ENSP00000501257.1:n.-35del
ENST00000302118.5:c.341del MANE Select	ENSP00000303208.5:p.Val114AlafsTer11
NM_174936.3:c.341del , LRG_275t1:c.341del	NP_777596.2:p.Val114AlafsTer11
NR_110451.1:n.182+3573del
NM_174936.4:c.341del MANE Select	NP_777596.2:p.Val114AlafsTer11
NR_110451.2:n.182+3573del