Canonical Allele Identifier: CA2674665219

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399105-C-CATAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399107_96399108insAAAAT , CM000667.2:g.96399107_96399108insAAAAT	GRCh38
NC_000005.9:g.95734811_95734812insAAAAT , CM000667.1:g.95734811_95734812insAAAAT	GRCh37
NC_000005.8:g.95760567_95760568insAAAAT	NCBI36
NG_021161.1:g.39176_39177insTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-70_1431-69insTTTAT MANE Select	ENSP00000308024.2:n.1431-70_1431-69insTTTAT
ENST00000311106.7:c.1431-70_1431-69insTTTAT	ENSP00000308024.2:n.1431-70_1431-69insTTTAT
ENST00000508626.5:c.1290-70_1290-69insTTTAT	ENSP00000421600.1:n.1290-70_1290-69insTTTAT
ENST00000513085.1:n.574-70_574-69insTTTAT
NM_000439.4:c.1431-70_1431-69insTTTAT	NP_000430.3:n.1431-70_1431-69insTTTAT
NM_001177875.1:c.1290-70_1290-69insTTTAT	NP_001171346.1:n.1290-70_1290-69insTTTAT
NR_130776.1:n.354+19455_354+19456insAAAAT
NM_000439.5:c.1431-70_1431-69insTTTAT MANE Select	NP_000430.3:n.1431-70_1431-69insTTTAT
NM_001177875.2:c.1290-70_1290-69insTTTAT	NP_001171346.1:n.1290-70_1290-69insTTTAT