Canonical Allele Identifier: CA815893994

Gene: PCSK1

Linked Data

• dbSNP Id: rs1271522061
• gnomAD v3: 5-96426902-T-TA
• gnomAD v4: 5-96426902-T-TA
• MyVariant Identifiers: chr5:g.95762606_95762607insA (hg19) ; chr5:g.96426902_96426903insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96426907dup , CM000667.2:g.96426907dup	GRCh38
NC_000005.9:g.95762611dup , CM000667.1:g.95762611dup	GRCh37
NC_000005.8:g.95788367dup	NCBI36
NG_021161.1:g.11379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.286-973dup MANE Select	ENSP00000308024.2:n.286-973dup
ENST00000311106.7:c.286-973dup	ENSP00000308024.2:n.286-973dup
ENST00000508626.5:c.145-973dup	ENSP00000421600.1:n.145-973dup
ENST00000509190.1:c.286-973dup	ENSP00000427294.1:n.286-973dup
NM_000439.4:c.286-973dup	NP_000430.3:n.286-973dup
NM_001177875.1:c.145-973dup	NP_001171346.1:n.145-973dup
NR_130776.1:n.354+47255dup
NM_000439.5:c.286-973dup MANE Select	NP_000430.3:n.286-973dup
NM_001177875.2:c.145-973dup	NP_001171346.1:n.145-973dup