Canonical Allele Identifier: CA815906780

Gene: PCSK1

Linked Data

• dbSNP Id: rs1404176907
• gnomAD v3: 5-96392127-CTGCTGAAAAAAATTGTGACTAGGAATT-C
• gnomAD v4: 5-96392127-CTGCTGAAAAAAATTGTGACTAGGAATT-C
• MyVariant Identifiers: chr5:g.95727832_95727858del (hg19) ; chr5:g.96392128_96392154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392131_96392157del , CM000667.2:g.96392131_96392157del	GRCh38
NC_000005.9:g.95727835_95727861del , CM000667.1:g.95727835_95727861del	GRCh37
NC_000005.8:g.95753591_95753617del	NCBI36
NG_021161.1:g.46128_46154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*847_*873del MANE Select	ENSP00000308024.2:n.*847_*873del
ENST00000311106.7:c.*847_*873del	ENSP00000308024.2:n.*847_*873del
NM_000439.4:c.*847_*873del	NP_000430.3:n.*847_*873del
NM_001177875.1:c.*847_*873del	NP_001171346.1:n.*847_*873del
NR_130776.1:n.354+12479_354+12505del
NM_000439.5:c.*847_*873del MANE Select	NP_000430.3:n.*847_*873del
NM_001177875.2:c.*847_*873del	NP_001171346.1:n.*847_*873del