Canonical Allele Identifier: CA2578366179

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96415961-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96415966del , CM000667.2:g.96415966del	GRCh38
NC_000005.9:g.95751670del , CM000667.1:g.95751670del	GRCh37
NC_000005.8:g.95777426del	NCBI36
NG_021161.1:g.22320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+71del MANE Select	ENSP00000308024.2:n.709+71del
ENST00000311106.7:c.709+71del	ENSP00000308024.2:n.709+71del
ENST00000508626.5:c.568+71del	ENSP00000421600.1:n.568+71del
NM_000439.4:c.709+71del	NP_000430.3:n.709+71del
NM_001177875.1:c.568+71del	NP_001171346.1:n.568+71del
NR_130776.1:n.354+36314del
NM_000439.5:c.709+71del MANE Select	NP_000430.3:n.709+71del
NM_001177875.2:c.568+71del	NP_001171346.1:n.568+71del