Canonical Allele Identifier: CA2528322549

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393211_96393212del , CM000667.2:g.96393211_96393212del	GRCh38
NC_000005.9:g.95728915_95728916del , CM000667.1:g.95728915_95728916del	GRCh37
NC_000005.8:g.95754671_95754672del	NCBI36
NG_021161.1:g.45071_45072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.2052_2053del MANE Select	ENSP00000308024.2:p.Pro685LysfsTer13
ENST00000311106.7:c.2052_2053del	ENSP00000308024.2:p.Pro685LysfsTer13
ENST00000508626.5:c.1911_1912del	ENSP00000421600.1:p.Pro638LysfsTer13
ENST00000513085.1:n.1195_1196del
NM_000439.4:c.2052_2053del	NP_000430.3:p.Pro685LysfsTer13
NM_001177875.1:c.1911_1912del	NP_001171346.1:p.Pro638LysfsTer13
NR_130776.1:n.354+13559_354+13560del
NM_000439.5:c.2052_2053del MANE Select	NP_000430.3:p.Pro685LysfsTer13
NM_001177875.2:c.1911_1912del	NP_001171346.1:p.Pro638LysfsTer13