Canonical Allele Identifier: CA1565411885

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96415814_96415837delinsTCCTGCAAAGATGTATAGGCTATA , CM000667.2:g.96415814_96415837delinsTCCTGCAAAGATGTATAGGCTATA	GRCh38
NC_000005.9:g.95751518_95751541delinsTCCTGCAAAGATGTATAGGCTATA , CM000667.1:g.95751518_95751541delinsTCCTGCAAAGATGTATAGGCTATA	GRCh37
NC_000005.8:g.95777274_95777297delinsTCCTGCAAAGATGTATAGGCTATA	NCBI36
NG_021161.1:g.22445_22468delinsTATAGCCTATACATCTTTGCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA MANE Select	ENSP00000308024.2:n.709+196_709+219delinsTATAGCCTATACATCTTTGC...
ENST00000311106.7:c.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA	ENSP00000308024.2:n.709+196_709+219delinsTATAGCCTATACATCTTTGC...
ENST00000508626.5:c.568+196_568+219delinsTATAGCCTATACATCTTTGCAGGA	ENSP00000421600.1:n.568+196_568+219delinsTATAGCCTATACATCTTTGC...
NM_000439.4:c.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA	NP_000430.3:n.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA
NM_001177875.1:c.568+196_568+219delinsTATAGCCTATACATCTTTGCAGGA	NP_001171346.1:n.568+196_568+219delinsTATAGCCTATACATCTTTGCAGG...
NR_130776.1:n.354+36162_354+36185delinsTCCTGCAAAGATGTATAGGCTATA
NM_000439.5:c.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA MANE Select	NP_000430.3:n.709+196_709+219delinsTATAGCCTATACATCTTTGCAGGA
NM_001177875.2:c.568+196_568+219delinsTATAGCCTATACATCTTTGCAGGA	NP_001171346.1:n.568+196_568+219delinsTATAGCCTATACATCTTTGCAGG...