Canonical Allele Identifier: CA2674667201

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429245-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429248del , CM000667.2:g.96429248del	GRCh38
NC_000005.9:g.95764952del , CM000667.1:g.95764952del	GRCh37
NC_000005.8:g.95790708del	NCBI36
NG_021161.1:g.9036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.252del MANE Select	ENSP00000308024.2:p.His85IlefsTer12
ENST00000311106.7:c.252del	ENSP00000308024.2:p.His85IlefsTer12
ENST00000508626.5:c.111del	ENSP00000421600.1:p.His38IlefsTer12
ENST00000509190.1:c.252del	ENSP00000427294.1:p.His85IlefsTer12
NM_000439.4:c.252del	NP_000430.3:p.His85IlefsTer12
NM_001177875.1:c.111del	NP_001171346.1:p.His38IlefsTer12
NR_130776.1:n.354+49596del
NM_000439.5:c.252del MANE Select	NP_000430.3:p.His85IlefsTer12
NM_001177875.2:c.111del	NP_001171346.1:p.His38IlefsTer12