Canonical Allele Identifier: CA2674665225

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96399116-C-CAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399116_96399117insAAGA , CM000667.2:g.96399116_96399117insAAGA	GRCh38
NC_000005.9:g.95734820_95734821insAAGA , CM000667.1:g.95734820_95734821insAAGA	GRCh37
NC_000005.8:g.95760576_95760577insAAGA	NCBI36
NG_021161.1:g.39165_39166insTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-81_1431-80insTCTT MANE Select	ENSP00000308024.2:n.1431-81_1431-80insTCTT
ENST00000311106.7:c.1431-81_1431-80insTCTT	ENSP00000308024.2:n.1431-81_1431-80insTCTT
ENST00000508626.5:c.1290-81_1290-80insTCTT	ENSP00000421600.1:n.1290-81_1290-80insTCTT
ENST00000513085.1:n.574-81_574-80insTCTT
NM_000439.4:c.1431-81_1431-80insTCTT	NP_000430.3:n.1431-81_1431-80insTCTT
NM_001177875.1:c.1290-81_1290-80insTCTT	NP_001171346.1:n.1290-81_1290-80insTCTT
NR_130776.1:n.354+19464_354+19465insAAGA
NM_000439.5:c.1431-81_1431-80insTCTT MANE Select	NP_000430.3:n.1431-81_1431-80insTCTT
NM_001177875.2:c.1290-81_1290-80insTCTT	NP_001171346.1:n.1290-81_1290-80insTCTT