Canonical Allele Identifier: CA2674666441

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96416194-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416198dup , CM000667.2:g.96416198dup	GRCh38
NC_000005.9:g.95751902dup , CM000667.1:g.95751902dup	GRCh37
NC_000005.8:g.95777658dup	NCBI36
NG_021161.1:g.22087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.621-74dup MANE Select	ENSP00000308024.2:n.621-74dup
ENST00000311106.7:c.621-74dup	ENSP00000308024.2:n.621-74dup
ENST00000508626.5:c.480-74dup	ENSP00000421600.1:n.480-74dup
NM_000439.4:c.621-74dup	NP_000430.3:n.621-74dup
NM_001177875.1:c.480-74dup	NP_001171346.1:n.480-74dup
NR_130776.1:n.354+36546dup
NM_000439.5:c.621-74dup MANE Select	NP_000430.3:n.621-74dup
NM_001177875.2:c.480-74dup	NP_001171346.1:n.480-74dup