Canonical Allele Identifier: CA2674667213

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429331-GAAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429339_96429343del , CM000667.2:g.96429339_96429343del	GRCh38
NC_000005.9:g.95765043_95765047del , CM000667.1:g.95765043_95765047del	GRCh37
NC_000005.8:g.95790799_95790803del	NCBI36
NG_021161.1:g.8946_8950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-19_181-15del MANE Select	ENSP00000308024.2:n.181-19_181-15del
ENST00000311106.7:c.181-19_181-15del	ENSP00000308024.2:n.181-19_181-15del
ENST00000508626.5:c.40-19_40-15del	ENSP00000421600.1:n.40-19_40-15del
ENST00000509190.1:c.181-19_181-15del	ENSP00000427294.1:n.181-19_181-15del
NM_000439.4:c.181-19_181-15del	NP_000430.3:n.181-19_181-15del
NM_001177875.1:c.40-19_40-15del	NP_001171346.1:n.40-19_40-15del
NR_130776.1:n.354+49687_354+49691del
NM_000439.5:c.181-19_181-15del MANE Select	NP_000430.3:n.181-19_181-15del
NM_001177875.2:c.40-19_40-15del	NP_001171346.1:n.40-19_40-15del