Canonical Allele Identifier: CA2674665214

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399101-TCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399102_96399105del , CM000667.2:g.96399102_96399105del	GRCh38
NC_000005.9:g.95734806_95734809del , CM000667.1:g.95734806_95734809del	GRCh37
NC_000005.8:g.95760562_95760565del	NCBI36
NG_021161.1:g.39177_39180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-69_1431-66del MANE Select	ENSP00000308024.2:n.1431-69_1431-66del
ENST00000311106.7:c.1431-69_1431-66del	ENSP00000308024.2:n.1431-69_1431-66del
ENST00000508626.5:c.1290-69_1290-66del	ENSP00000421600.1:n.1290-69_1290-66del
ENST00000513085.1:n.574-69_574-66del
NM_000439.4:c.1431-69_1431-66del	NP_000430.3:n.1431-69_1431-66del
NM_001177875.1:c.1290-69_1290-66del	NP_001171346.1:n.1290-69_1290-66del
NR_130776.1:n.354+19450_354+19453del
NM_000439.5:c.1431-69_1431-66del MANE Select	NP_000430.3:n.1431-69_1431-66del
NM_001177875.2:c.1290-69_1290-66del	NP_001171346.1:n.1290-69_1290-66del