Canonical Allele Identifier: CA1565418006

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429090_96429094delinsTAAAC , CM000667.2:g.96429090_96429094delinsTAAAC	GRCh38
NC_000005.9:g.95764794_95764798delinsTAAAC , CM000667.1:g.95764794_95764798delinsTAAAC	GRCh37
NC_000005.8:g.95790550_95790554delinsTAAAC	NCBI36
NG_021161.1:g.9188_9192delinsGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+119_285+123delinsGTTTA MANE Select	ENSP00000308024.2:n.285+119_285+123delinsGTTTA
ENST00000311106.7:c.285+119_285+123delinsGTTTA	ENSP00000308024.2:n.285+119_285+123delinsGTTTA
ENST00000508626.5:c.144+119_144+123delinsGTTTA	ENSP00000421600.1:n.144+119_144+123delinsGTTTA
ENST00000509190.1:c.285+119_285+123delinsGTTTA	ENSP00000427294.1:n.285+119_285+123delinsGTTTA
NM_000439.4:c.285+119_285+123delinsGTTTA	NP_000430.3:n.285+119_285+123delinsGTTTA
NM_001177875.1:c.144+119_144+123delinsGTTTA	NP_001171346.1:n.144+119_144+123delinsGTTTA
NR_130776.1:n.354+49438_354+49442delinsTAAAC
NM_000439.5:c.285+119_285+123delinsGTTTA MANE Select	NP_000430.3:n.285+119_285+123delinsGTTTA
NM_001177875.2:c.144+119_144+123delinsGTTTA	NP_001171346.1:n.144+119_144+123delinsGTTTA