Canonical Allele Identifier: CA1565401588

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96392127_96392154delinsCTGCTGAAAAAAATTGTGACTAGGAATT , CM000667.2:g.96392127_96392154delinsCTGCTGAAAAAAATTGTGACTAGGAATT	GRCh38
NC_000005.9:g.95727831_95727858delinsCTGCTGAAAAAAATTGTGACTAGGAATT , CM000667.1:g.95727831_95727858delinsCTGCTGAAAAAAATTGTGACTAGGAATT	GRCh37
NC_000005.8:g.95753587_95753614delinsCTGCTGAAAAAAATTGTGACTAGGAATT	NCBI36
NG_021161.1:g.46128_46155delinsAATTCCTAGTCACAATTTTTTTCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG MANE Select	ENSP00000308024.2:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGC...
ENST00000311106.7:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG	ENSP00000308024.2:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGC...
NM_000439.4:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG	NP_000430.3:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG
NM_001177875.1:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG	NP_001171346.1:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG
NR_130776.1:n.354+12475_354+12502delinsCTGCTGAAAAAAATTGTGACTAGGAATT
NM_000439.5:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG MANE Select	NP_000430.3:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG
NM_001177875.2:c.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG	NP_001171346.1:n.*847_*874delinsAATTCCTAGTCACAATTTTTTTCAGCAG