Canonical Allele Identifier: CA815895296

Gene: PCSK1

Linked Data

• dbSNP Id: rs1476929098
• gnomAD v4: 5-96429392-AACTT-A
• MyVariant Identifiers: chr5:g.95765097_95765100del (hg19) ; chr5:g.96429393_96429396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429394_96429397del , CM000667.2:g.96429394_96429397del	GRCh38
NC_000005.9:g.95765098_95765101del , CM000667.1:g.95765098_95765101del	GRCh37
NC_000005.8:g.95790854_95790857del	NCBI36
NG_021161.1:g.8886_8889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-79_181-76del MANE Select	ENSP00000308024.2:n.181-79_181-76del
ENST00000311106.7:c.181-79_181-76del	ENSP00000308024.2:n.181-79_181-76del
ENST00000508626.5:c.40-79_40-76del	ENSP00000421600.1:n.40-79_40-76del
ENST00000509190.1:c.181-79_181-76del	ENSP00000427294.1:n.181-79_181-76del
NM_000439.4:c.181-79_181-76del	NP_000430.3:n.181-79_181-76del
NM_001177875.1:c.40-79_40-76del	NP_001171346.1:n.40-79_40-76del
NR_130776.1:n.354+49742_354+49745del
NM_000439.5:c.181-79_181-76del MANE Select	NP_000430.3:n.181-79_181-76del
NM_001177875.2:c.40-79_40-76del	NP_001171346.1:n.40-79_40-76del