Canonical Allele Identifier: CA815894974

Gene: PCSK1

Linked Data

• dbSNP Id: rs1368729703
• gnomAD v3: 5-96429078-AAAT-A
• gnomAD v4: 5-96429078-AAAT-A
• MyVariant Identifiers: chr5:g.95764783_95764785del (hg19) ; chr5:g.96429079_96429081del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429083_96429085del , CM000667.2:g.96429083_96429085del	GRCh38
NC_000005.9:g.95764787_95764789del , CM000667.1:g.95764787_95764789del	GRCh37
NC_000005.8:g.95790543_95790545del	NCBI36
NG_021161.1:g.9201_9203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+132_285+134del MANE Select	ENSP00000308024.2:n.285+132_285+134del
ENST00000311106.7:c.285+132_285+134del	ENSP00000308024.2:n.285+132_285+134del
ENST00000508626.5:c.144+132_144+134del	ENSP00000421600.1:n.144+132_144+134del
ENST00000509190.1:c.285+132_285+134del	ENSP00000427294.1:n.285+132_285+134del
NM_000439.4:c.285+132_285+134del	NP_000430.3:n.285+132_285+134del
NM_001177875.1:c.144+132_144+134del	NP_001171346.1:n.144+132_144+134del
NR_130776.1:n.354+49431_354+49433del
NM_000439.5:c.285+132_285+134del MANE Select	NP_000430.3:n.285+132_285+134del
NM_001177875.2:c.144+132_144+134del	NP_001171346.1:n.144+132_144+134del