Canonical Allele Identifier: CA1565418001

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429078_96429081delinsAAAT , CM000667.2:g.96429078_96429081delinsAAAT	GRCh38
NC_000005.9:g.95764782_95764785delinsAAAT , CM000667.1:g.95764782_95764785delinsAAAT	GRCh37
NC_000005.8:g.95790538_95790541delinsAAAT	NCBI36
NG_021161.1:g.9201_9204delinsATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+132_285+135delinsATTT MANE Select	ENSP00000308024.2:n.285+132_285+135delinsATTT
ENST00000311106.7:c.285+132_285+135delinsATTT	ENSP00000308024.2:n.285+132_285+135delinsATTT
ENST00000508626.5:c.144+132_144+135delinsATTT	ENSP00000421600.1:n.144+132_144+135delinsATTT
ENST00000509190.1:c.285+132_285+135delinsATTT	ENSP00000427294.1:n.285+132_285+135delinsATTT
NM_000439.4:c.285+132_285+135delinsATTT	NP_000430.3:n.285+132_285+135delinsATTT
NM_001177875.1:c.144+132_144+135delinsATTT	NP_001171346.1:n.144+132_144+135delinsATTT
NR_130776.1:n.354+49426_354+49429delinsAAAT
NM_000439.5:c.285+132_285+135delinsATTT MANE Select	NP_000430.3:n.285+132_285+135delinsATTT
NM_001177875.2:c.144+132_144+135delinsATTT	NP_001171346.1:n.144+132_144+135delinsATTT