Canonical Allele Identifier: CA2674665199

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399079-ACTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399083_96399086del , CM000667.2:g.96399083_96399086del	GRCh38
NC_000005.9:g.95734787_95734790del , CM000667.1:g.95734787_95734790del	GRCh37
NC_000005.8:g.95760543_95760546del	NCBI36
NG_021161.1:g.39199_39202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-47_1431-44del MANE Select	ENSP00000308024.2:n.1431-47_1431-44del
ENST00000311106.7:c.1431-47_1431-44del	ENSP00000308024.2:n.1431-47_1431-44del
ENST00000508626.5:c.1290-47_1290-44del	ENSP00000421600.1:n.1290-47_1290-44del
ENST00000513085.1:n.574-47_574-44del
NM_000439.4:c.1431-47_1431-44del	NP_000430.3:n.1431-47_1431-44del
NM_001177875.1:c.1290-47_1290-44del	NP_001171346.1:n.1290-47_1290-44del
NR_130776.1:n.354+19431_354+19434del
NM_000439.5:c.1431-47_1431-44del MANE Select	NP_000430.3:n.1431-47_1431-44del
NM_001177875.2:c.1290-47_1290-44del	NP_001171346.1:n.1290-47_1290-44del