Canonical Allele Identifier: CA1565411941
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1760925120
gnomAD v4: 5-96415943-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415948del , CM000667.2:g.96415948del GRCh38
NC_000005.9:g.95751652del , CM000667.1:g.95751652del GRCh37
NC_000005.8:g.95777408del NCBI36
NG_021161.1:g.22338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+89del MANE Select ENSP00000308024.2:n.709+89del
ENST00000311106.7:c.709+89del ENSP00000308024.2:n.709+89del
ENST00000508626.5:c.568+89del ENSP00000421600.1:n.568+89del
NM_000439.4:c.709+89del NP_000430.3:n.709+89del
NM_001177875.1:c.568+89del NP_001171346.1:n.568+89del
NR_130776.1:n.354+36296del
NM_000439.5:c.709+89del MANE Select NP_000430.3:n.709+89del
NM_001177875.2:c.568+89del NP_001171346.1:n.568+89del
Search 100 bp 5'
Search 100 bp 3'