Canonical Allele Identifier: CA2674665211

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399097-C-CAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399098_96399099insAGGA , CM000667.2:g.96399098_96399099insAGGA	GRCh38
NC_000005.9:g.95734802_95734803insAGGA , CM000667.1:g.95734802_95734803insAGGA	GRCh37
NC_000005.8:g.95760558_95760559insAGGA	NCBI36
NG_021161.1:g.39184_39185insCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-62_1431-61insCCTT MANE Select	ENSP00000308024.2:n.1431-62_1431-61insCCTT
ENST00000311106.7:c.1431-62_1431-61insCCTT	ENSP00000308024.2:n.1431-62_1431-61insCCTT
ENST00000508626.5:c.1290-62_1290-61insCCTT	ENSP00000421600.1:n.1290-62_1290-61insCCTT
ENST00000513085.1:n.574-62_574-61insCCTT
NM_000439.4:c.1431-62_1431-61insCCTT	NP_000430.3:n.1431-62_1431-61insCCTT
NM_001177875.1:c.1290-62_1290-61insCCTT	NP_001171346.1:n.1290-62_1290-61insCCTT
NR_130776.1:n.354+19446_354+19447insAGGA
NM_000439.5:c.1431-62_1431-61insCCTT MANE Select	NP_000430.3:n.1431-62_1431-61insCCTT
NM_001177875.2:c.1290-62_1290-61insCCTT	NP_001171346.1:n.1290-62_1290-61insCCTT