Canonical Allele Identifier: CA10625322

Gene: PCSK1

Linked Data

• ClinVar Variation Id: 354630
• ClinVar RCV Id: RCV000345988 ; RCV000395546
• dbSNP Id: rs5869716
• gnomAD v2: 5-95727965-C-CAGA
• gnomAD v3: 5-96392261-C-CAGA
• gnomAD v4: 5-96392261-C-CAGA
• COSMIC: COSN20101544 ; COSN20101545 ; COSN20101546 ; COSN20101547
• MyVariant Identifiers: chr5:g.95727966_95727968dupAGA (hg19) ; chr5:g.95727965_95727966insAGA (hg19) ; chr5:g.96392262_96392264dupAGA (hg38) ; chr5:g.96392261_96392262insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392264_96392266dup , CM000667.2:g.96392264_96392266dup	GRCh38
NC_000005.9:g.95727968_95727970dup , CM000667.1:g.95727968_95727970dup	GRCh37
NC_000005.8:g.95753724_95753726dup	NCBI36
NG_021161.1:g.46018_46020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*737_*739dup MANE Select	ENSP00000308024.2:n.*737_*739dup
ENST00000311106.7:c.*737_*739dup	ENSP00000308024.2:n.*737_*739dup
NM_000439.4:c.*737_*739dup	NP_000430.3:n.*737_*739dup
NM_001177875.1:c.*737_*739dup	NP_001171346.1:n.*737_*739dup
NR_130776.1:n.354+12612_354+12614dup
NM_000439.5:c.*737_*739dup MANE Select	NP_000430.3:n.*737_*739dup
NM_001177875.2:c.*737_*739dup	NP_001171346.1:n.*737_*739dup