Canonical Allele Identifier: CA1565418019

Gene: PCSK1

Linked Data

• dbSNP Id: rs139711271
• gnomAD v4: 5-96429109-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429118_96429119del , CM000667.2:g.96429118_96429119del	GRCh38
NC_000005.9:g.95764822_95764823del , CM000667.1:g.95764822_95764823del	GRCh37
NC_000005.8:g.95790578_95790579del	NCBI36
NG_021161.1:g.9171_9172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+102_285+103del MANE Select	ENSP00000308024.2:n.285+102_285+103del
ENST00000311106.7:c.285+102_285+103del	ENSP00000308024.2:n.285+102_285+103del
ENST00000508626.5:c.144+102_144+103del	ENSP00000421600.1:n.144+102_144+103del
ENST00000509190.1:c.285+102_285+103del	ENSP00000427294.1:n.285+102_285+103del
NM_000439.4:c.285+102_285+103del	NP_000430.3:n.285+102_285+103del
NM_001177875.1:c.144+102_144+103del	NP_001171346.1:n.144+102_144+103del
NR_130776.1:n.354+49466_354+49467del
NM_000439.5:c.285+102_285+103del MANE Select	NP_000430.3:n.285+102_285+103del
NM_001177875.2:c.144+102_144+103del	NP_001171346.1:n.144+102_144+103del