Canonical Allele Identifier: CA2540018407

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416096_96416097insAGATATGGA , CM000667.2:g.96416096_96416097insAGATATGGA	GRCh38
NC_000005.9:g.95751800_95751801insAGATATGGA , CM000667.1:g.95751800_95751801insAGATATGGA	GRCh37
NC_000005.8:g.95777556_95777557insAGATATGGA	NCBI36
NG_021161.1:g.22185_22186insTCCATATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.645_646insTCCATATCT MANE Select	ENSP00000308024.2:p.Glu215_Ile216insSerIleSer
ENST00000311106.7:c.645_646insTCCATATCT	ENSP00000308024.2:p.Glu215_Ile216insSerIleSer
ENST00000508626.5:c.504_505insTCCATATCT	ENSP00000421600.1:p.Glu168_Ile169insSerIleSer
NM_000439.4:c.645_646insTCCATATCT	NP_000430.3:p.Glu215_Ile216insSerIleSer
NM_001177875.1:c.504_505insTCCATATCT	NP_001171346.1:p.Glu168_Ile169insSerIleSer
NR_130776.1:n.354+36444_354+36445insAGATATGGA
NM_000439.5:c.645_646insTCCATATCT MANE Select	NP_000430.3:p.Glu215_Ile216insSerIleSer
NM_001177875.2:c.504_505insTCCATATCT	NP_001171346.1:p.Glu168_Ile169insSerIleSer