Canonical Allele Identifier: CA2674667230

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429386-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429387_96429388del , CM000667.2:g.96429387_96429388del	GRCh38
NC_000005.9:g.95765091_95765092del , CM000667.1:g.95765091_95765092del	GRCh37
NC_000005.8:g.95790847_95790848del	NCBI36
NG_021161.1:g.8894_8895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-71_181-70del MANE Select	ENSP00000308024.2:n.181-71_181-70del
ENST00000311106.7:c.181-71_181-70del	ENSP00000308024.2:n.181-71_181-70del
ENST00000508626.5:c.40-71_40-70del	ENSP00000421600.1:n.40-71_40-70del
ENST00000509190.1:c.181-71_181-70del	ENSP00000427294.1:n.181-71_181-70del
NM_000439.4:c.181-71_181-70del	NP_000430.3:n.181-71_181-70del
NM_001177875.1:c.40-71_40-70del	NP_001171346.1:n.40-71_40-70del
NR_130776.1:n.354+49735_354+49736del
NM_000439.5:c.181-71_181-70del MANE Select	NP_000430.3:n.181-71_181-70del
NM_001177875.2:c.40-71_40-70del	NP_001171346.1:n.40-71_40-70del