Canonical Allele Identifier: CA1565418032

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429137_96429139delinsTTC , CM000667.2:g.96429137_96429139delinsTTC	GRCh38
NC_000005.9:g.95764841_95764843delinsTTC , CM000667.1:g.95764841_95764843delinsTTC	GRCh37
NC_000005.8:g.95790597_95790599delinsTTC	NCBI36
NG_021161.1:g.9143_9145delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+74_285+76delinsGAA MANE Select	ENSP00000308024.2:n.285+74_285+76delinsGAA
ENST00000311106.7:c.285+74_285+76delinsGAA	ENSP00000308024.2:n.285+74_285+76delinsGAA
ENST00000508626.5:c.144+74_144+76delinsGAA	ENSP00000421600.1:n.144+74_144+76delinsGAA
ENST00000509190.1:c.285+74_285+76delinsGAA	ENSP00000427294.1:n.285+74_285+76delinsGAA
NM_000439.4:c.285+74_285+76delinsGAA	NP_000430.3:n.285+74_285+76delinsGAA
NM_001177875.1:c.144+74_144+76delinsGAA	NP_001171346.1:n.144+74_144+76delinsGAA
NR_130776.1:n.354+49485_354+49487delinsTTC
NM_000439.5:c.285+74_285+76delinsGAA MANE Select	NP_000430.3:n.285+74_285+76delinsGAA
NM_001177875.2:c.144+74_144+76delinsGAA	NP_001171346.1:n.144+74_144+76delinsGAA