Canonical Allele Identifier: CA2674667199

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429215-GATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429223_96429225del , CM000667.2:g.96429223_96429225del	GRCh38
NC_000005.9:g.95764927_95764929del , CM000667.1:g.95764927_95764929del	GRCh37
NC_000005.8:g.95790683_95790685del	NCBI36
NG_021161.1:g.9064_9066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.280_282del MANE Select	ENSP00000308024.2:p.Asp94del
ENST00000311106.7:c.280_282del	ENSP00000308024.2:p.Asp94del
ENST00000508626.5:c.139_141del	ENSP00000421600.1:p.Asp47del
ENST00000509190.1:c.280_282del	ENSP00000427294.1:p.Asp94del
NM_000439.4:c.280_282del	NP_000430.3:p.Asp94del
NM_001177875.1:c.139_141del	NP_001171346.1:p.Asp47del
NR_130776.1:n.354+49571_354+49573del
NM_000439.5:c.280_282del MANE Select	NP_000430.3:p.Asp94del
NM_001177875.2:c.139_141del	NP_001171346.1:p.Asp47del