Canonical Allele Identifier: CA2578366387

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429308_96429316del , CM000667.2:g.96429308_96429316del	GRCh38
NC_000005.9:g.95765012_95765020del , CM000667.1:g.95765012_95765020del	GRCh37
NC_000005.8:g.95790768_95790776del	NCBI36
NG_021161.1:g.8969_8977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.185_193del MANE Select	ENSP00000308024.2:p.Gly62_Leu64del
ENST00000311106.7:c.185_193del	ENSP00000308024.2:p.Gly62_Leu64del
ENST00000508626.5:c.44_52del	ENSP00000421600.1:p.Gly15_Leu17del
ENST00000509190.1:c.185_193del	ENSP00000427294.1:p.Gly62_Leu64del
NM_000439.4:c.185_193del	NP_000430.3:p.Gly62_Leu64del
NM_001177875.1:c.44_52del	NP_001171346.1:p.Gly15_Leu17del
NR_130776.1:n.354+49656_354+49664del
NM_000439.5:c.185_193del MANE Select	NP_000430.3:p.Gly62_Leu64del
NM_001177875.2:c.44_52del	NP_001171346.1:p.Gly15_Leu17del