Canonical Allele Identifier: CA815895389

Gene: PCSK1

Linked Data

• dbSNP Id: rs1372060089
• MyVariant Identifiers: chr5:g.95765308_95765309insCCACCAT (hg19) ; chr5:g.96429604_96429605insCCACCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429609_96429610insATCCACC , CM000667.2:g.96429609_96429610insATCCACC	GRCh38
NC_000005.9:g.95765313_95765314insATCCACC , CM000667.1:g.95765313_95765314insATCCACC	GRCh37
NC_000005.8:g.95791069_95791070insATCCACC	NCBI36
NG_021161.1:g.8677_8678insATGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-288_181-287insATGGTGG MANE Select	ENSP00000308024.2:n.181-288_181-287insATGGTGG
ENST00000311106.7:c.181-288_181-287insATGGTGG	ENSP00000308024.2:n.181-288_181-287insATGGTGG
ENST00000508626.5:c.40-288_40-287insATGGTGG	ENSP00000421600.1:n.40-288_40-287insATGGTGG
ENST00000509190.1:c.181-288_181-287insATGGTGG	ENSP00000427294.1:n.181-288_181-287insATGGTGG
NM_000439.4:c.181-288_181-287insATGGTGG	NP_000430.3:n.181-288_181-287insATGGTGG
NM_001177875.1:c.40-288_40-287insATGGTGG	NP_001171346.1:n.40-288_40-287insATGGTGG
NR_130776.1:n.354+49957_354+49958insATCCACC
NM_000439.5:c.181-288_181-287insATGGTGG MANE Select	NP_000430.3:n.181-288_181-287insATGGTGG
NM_001177875.2:c.40-288_40-287insATGGTGG	NP_001171346.1:n.40-288_40-287insATGGTGG