Canonical Allele Identifier: CA1565418023

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429119_96429120delinsAC , CM000667.2:g.96429119_96429120delinsAC	GRCh38
NC_000005.9:g.95764823_95764824delinsAC , CM000667.1:g.95764823_95764824delinsAC	GRCh37
NC_000005.8:g.95790579_95790580delinsAC	NCBI36
NG_021161.1:g.9162_9163delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+93_285+94delinsGT MANE Select	ENSP00000308024.2:n.285+93_285+94delinsGT
ENST00000311106.7:c.285+93_285+94delinsGT	ENSP00000308024.2:n.285+93_285+94delinsGT
ENST00000508626.5:c.144+93_144+94delinsGT	ENSP00000421600.1:n.144+93_144+94delinsGT
ENST00000509190.1:c.285+93_285+94delinsGT	ENSP00000427294.1:n.285+93_285+94delinsGT
NM_000439.4:c.285+93_285+94delinsGT	NP_000430.3:n.285+93_285+94delinsGT
NM_001177875.1:c.144+93_144+94delinsGT	NP_001171346.1:n.144+93_144+94delinsGT
NR_130776.1:n.354+49467_354+49468delinsAC
NM_000439.5:c.285+93_285+94delinsGT MANE Select	NP_000430.3:n.285+93_285+94delinsGT
NM_001177875.2:c.144+93_144+94delinsGT	NP_001171346.1:n.144+93_144+94delinsGT