Canonical Allele Identifier: CA1565411897

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96415839_96415849delinsTCAACTATCCA , CM000667.2:g.96415839_96415849delinsTCAACTATCCA	GRCh38
NC_000005.9:g.95751543_95751553delinsTCAACTATCCA , CM000667.1:g.95751543_95751553delinsTCAACTATCCA	GRCh37
NC_000005.8:g.95777299_95777309delinsTCAACTATCCA	NCBI36
NG_021161.1:g.22433_22443delinsTGGATAGTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+184_709+194delinsTGGATAGTTGA MANE Select	ENSP00000308024.2:n.709+184_709+194delinsTGGATAGTTGA
ENST00000311106.7:c.709+184_709+194delinsTGGATAGTTGA	ENSP00000308024.2:n.709+184_709+194delinsTGGATAGTTGA
ENST00000508626.5:c.568+184_568+194delinsTGGATAGTTGA	ENSP00000421600.1:n.568+184_568+194delinsTGGATAGTTGA
NM_000439.4:c.709+184_709+194delinsTGGATAGTTGA	NP_000430.3:n.709+184_709+194delinsTGGATAGTTGA
NM_001177875.1:c.568+184_568+194delinsTGGATAGTTGA	NP_001171346.1:n.568+184_568+194delinsTGGATAGTTGA
NR_130776.1:n.354+36187_354+36197delinsTCAACTATCCA
NM_000439.5:c.709+184_709+194delinsTGGATAGTTGA MANE Select	NP_000430.3:n.709+184_709+194delinsTGGATAGTTGA
NM_001177875.2:c.568+184_568+194delinsTGGATAGTTGA	NP_001171346.1:n.568+184_568+194delinsTGGATAGTTGA