Canonical Allele Identifier: CA2645840851
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55063814-CCCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063816_55063818del , CM000663.2:g.55063816_55063818del GRCh38
NC_000001.10:g.55529489_55529491del , CM000663.1:g.55529489_55529491del GRCh37
NC_000001.9:g.55302077_55302079del NCBI36
NG_009061.1:g.29270_29272del , LRG_275:g.29270_29272del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*651_*653del ENSP00000501161.2:n.*651_*653del
ENST00000710286.1:c.*232_*234del ENSP00000518176.1:n.*232_*234del
ENST00000673903.1:c.*232_*234del ENSP00000501257.1:n.*232_*234del
ENST00000302118.5:c.*232_*234del MANE Select ENSP00000303208.5:n.*232_*234del
ENST00000490692.1:n.2857_2859del
NM_174936.3:c.*232_*234del , LRG_275t1:c.*232_*234del NP_777596.2:n.*232_*234del
NR_110451.1:n.1918_1920del
XM_011541193.1:c.*232_*234del XP_011539495.1:n.*232_*234del
NM_174936.4:c.*232_*234del MANE Select NP_777596.2:n.*232_*234del
NR_110451.2:n.1918_1920del
Search 100 bp 5'
Search 100 bp 3'