Canonical Allele Identifier: CA2674664205

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96392174-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392183_96392185dup , CM000667.2:g.96392183_96392185dup	GRCh38
NC_000005.9:g.95727887_95727889dup , CM000667.1:g.95727887_95727889dup	GRCh37
NC_000005.8:g.95753643_95753645dup	NCBI36
NG_021161.1:g.46105_46107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*824_*826dup MANE Select	ENSP00000308024.2:n.*824_*826dup
ENST00000311106.7:c.*824_*826dup	ENSP00000308024.2:n.*824_*826dup
NM_000439.4:c.*824_*826dup	NP_000430.3:n.*824_*826dup
NM_001177875.1:c.*824_*826dup	NP_001171346.1:n.*824_*826dup
NR_130776.1:n.354+12531_354+12533dup
NM_000439.5:c.*824_*826dup MANE Select	NP_000430.3:n.*824_*826dup
NM_001177875.2:c.*824_*826dup	NP_001171346.1:n.*824_*826dup