Canonical Allele Identifier: CA2674667233

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429389-GCTAACTTAGAGATAGGCAACTTTTATTAAGCCCATTCCTGGTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429392_96429435del , CM000667.2:g.96429392_96429435del	GRCh38
NC_000005.9:g.95765096_95765139del , CM000667.1:g.95765096_95765139del	GRCh37
NC_000005.8:g.95790852_95790895del	NCBI36
NG_021161.1:g.8849_8892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-116_181-73del MANE Select	ENSP00000308024.2:n.181-116_181-73del
ENST00000311106.7:c.181-116_181-73del	ENSP00000308024.2:n.181-116_181-73del
ENST00000508626.5:c.40-116_40-73del	ENSP00000421600.1:n.40-116_40-73del
ENST00000509190.1:c.181-116_181-73del	ENSP00000427294.1:n.181-116_181-73del
NM_000439.4:c.181-116_181-73del	NP_000430.3:n.181-116_181-73del
NM_001177875.1:c.40-116_40-73del	NP_001171346.1:n.40-116_40-73del
NR_130776.1:n.354+49740_354+49783del
NM_000439.5:c.181-116_181-73del MANE Select	NP_000430.3:n.181-116_181-73del
NM_001177875.2:c.40-116_40-73del	NP_001171346.1:n.40-116_40-73del