Canonical Allele Identifier: CA1565412001

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416101_96416104delinsCCTG , CM000667.2:g.96416101_96416104delinsCCTG	GRCh38
NC_000005.9:g.95751805_95751808delinsCCTG , CM000667.1:g.95751805_95751808delinsCCTG	GRCh37
NC_000005.8:g.95777561_95777564delinsCCTG	NCBI36
NG_021161.1:g.22178_22181delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.638_641delinsCAGG MANE Select	ENSP00000308024.2:p.Ala213=
ENST00000311106.7:c.638_641delinsCAGG	ENSP00000308024.2:p.Ala213=
ENST00000508626.5:c.497_500delinsCAGG	ENSP00000421600.1:p.Ala166=
NM_000439.4:c.638_641delinsCAGG	NP_000430.3:p.Ala213=
NM_001177875.1:c.497_500delinsCAGG	NP_001171346.1:p.Ala166=
NR_130776.1:n.354+36449_354+36452delinsCCTG
NM_000439.5:c.638_641delinsCAGG MANE Select	NP_000430.3:p.Ala213=
NM_001177875.2:c.497_500delinsCAGG	NP_001171346.1:p.Ala166=