Canonical Allele Identifier: CA2674667200

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429228-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429230del , CM000667.2:g.96429230del	GRCh38
NC_000005.9:g.95764934del , CM000667.1:g.95764934del	GRCh37
NC_000005.8:g.95790690del	NCBI36
NG_021161.1:g.9053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.269del MANE Select	ENSP00000308024.2:p.Leu90TyrfsTer7
ENST00000311106.7:c.269del	ENSP00000308024.2:p.Leu90TyrfsTer7
ENST00000508626.5:c.128del	ENSP00000421600.1:p.Leu43TyrfsTer7
ENST00000509190.1:c.269del	ENSP00000427294.1:p.Leu90TyrfsTer7
NM_000439.4:c.269del	NP_000430.3:p.Leu90TyrfsTer7
NM_001177875.1:c.128del	NP_001171346.1:p.Leu43TyrfsTer7
NR_130776.1:n.354+49578del
NM_000439.5:c.269del MANE Select	NP_000430.3:p.Leu90TyrfsTer7
NM_001177875.2:c.128del	NP_001171346.1:p.Leu43TyrfsTer7