Canonical Allele Identifier: CA1079028090

Gene: PCSK1

Linked Data

• dbSNP Id: rs1761427168
• gnomAD v3: 5-96429561-GCCC-G
• gnomAD v4: 5-96429561-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429562_96429564del , CM000667.2:g.96429562_96429564del	GRCh38
NC_000005.9:g.95765266_95765268del , CM000667.1:g.95765266_95765268del	GRCh37
NC_000005.8:g.95791022_95791024del	NCBI36
NG_021161.1:g.8718_8720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-247_181-245del MANE Select	ENSP00000308024.2:n.181-247_181-245del
ENST00000311106.7:c.181-247_181-245del	ENSP00000308024.2:n.181-247_181-245del
ENST00000508626.5:c.40-247_40-245del	ENSP00000421600.1:n.40-247_40-245del
ENST00000509190.1:c.181-247_181-245del	ENSP00000427294.1:n.181-247_181-245del
NM_000439.4:c.181-247_181-245del	NP_000430.3:n.181-247_181-245del
NM_001177875.1:c.40-247_40-245del	NP_001171346.1:n.40-247_40-245del
NR_130776.1:n.354+49910_354+49912del
NM_000439.5:c.181-247_181-245del MANE Select	NP_000430.3:n.181-247_181-245del
NM_001177875.2:c.40-247_40-245del	NP_001171346.1:n.40-247_40-245del