Canonical Allele Identifier: CA1565418038

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429158_96429162delinsTAAAG , CM000667.2:g.96429158_96429162delinsTAAAG	GRCh38
NC_000005.9:g.95764862_95764866delinsTAAAG , CM000667.1:g.95764862_95764866delinsTAAAG	GRCh37
NC_000005.8:g.95790618_95790622delinsTAAAG	NCBI36
NG_021161.1:g.9120_9124delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+51_285+55delinsCTTTA MANE Select	ENSP00000308024.2:n.285+51_285+55delinsCTTTA
ENST00000311106.7:c.285+51_285+55delinsCTTTA	ENSP00000308024.2:n.285+51_285+55delinsCTTTA
ENST00000508626.5:c.144+51_144+55delinsCTTTA	ENSP00000421600.1:n.144+51_144+55delinsCTTTA
ENST00000509190.1:c.285+51_285+55delinsCTTTA	ENSP00000427294.1:n.285+51_285+55delinsCTTTA
NM_000439.4:c.285+51_285+55delinsCTTTA	NP_000430.3:n.285+51_285+55delinsCTTTA
NM_001177875.1:c.144+51_144+55delinsCTTTA	NP_001171346.1:n.144+51_144+55delinsCTTTA
NR_130776.1:n.354+49506_354+49510delinsTAAAG
NM_000439.5:c.285+51_285+55delinsCTTTA MANE Select	NP_000430.3:n.285+51_285+55delinsCTTTA
NM_001177875.2:c.144+51_144+55delinsCTTTA	NP_001171346.1:n.144+51_144+55delinsCTTTA