Canonical Allele Identifier: CA122935558

Gene: PCSK1

Linked Data

• dbSNP Id: rs560055002
• gnomAD v2: 5-95764794-TAAAC-T
• gnomAD v3: 5-96429090-TAAAC-T
• gnomAD v4: 5-96429090-TAAAC-T
• MyVariant Identifiers: chr5:g.95764795_95764798del (hg19) ; chr5:g.96429091_96429094del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429093_96429096del , CM000667.2:g.96429093_96429096del	GRCh38
NC_000005.9:g.95764797_95764800del , CM000667.1:g.95764797_95764800del	GRCh37
NC_000005.8:g.95790553_95790556del	NCBI36
NG_021161.1:g.9188_9191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+119_285+122del MANE Select	ENSP00000308024.2:n.285+119_285+122del
ENST00000311106.7:c.285+119_285+122del	ENSP00000308024.2:n.285+119_285+122del
ENST00000508626.5:c.144+119_144+122del	ENSP00000421600.1:n.144+119_144+122del
ENST00000509190.1:c.285+119_285+122del	ENSP00000427294.1:n.285+119_285+122del
NM_000439.4:c.285+119_285+122del	NP_000430.3:n.285+119_285+122del
NM_001177875.1:c.144+119_144+122del	NP_001171346.1:n.144+119_144+122del
NR_130776.1:n.354+49441_354+49444del
NM_000439.5:c.285+119_285+122del MANE Select	NP_000430.3:n.285+119_285+122del
NM_001177875.2:c.144+119_144+122del	NP_001171346.1:n.144+119_144+122del