Canonical Allele Identifier: CA2507455145

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429316_96429317insGATTGTTTA , CM000667.2:g.96429316_96429317insGATTGTTTA	GRCh38
NC_000005.9:g.95765020_95765021insGATTGTTTA , CM000667.1:g.95765020_95765021insGATTGTTTA	GRCh37
NC_000005.8:g.95790776_95790777insGATTGTTTA	NCBI36
NG_021161.1:g.8966_8967insAAACAATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.182_183insAAACAATCT MANE Select	ENSP00000308024.2:p.Ile61_Gly62insAsnAsnLeu
ENST00000311106.7:c.182_183insAAACAATCT	ENSP00000308024.2:p.Ile61_Gly62insAsnAsnLeu
ENST00000508626.5:c.41_42insAAACAATCT	ENSP00000421600.1:p.Ile14_Gly15insAsnAsnLeu
ENST00000509190.1:c.182_183insAAACAATCT	ENSP00000427294.1:p.Ile61_Gly62insAsnAsnLeu
NM_000439.4:c.182_183insAAACAATCT	NP_000430.3:p.Ile61_Gly62insAsnAsnLeu
NM_001177875.1:c.41_42insAAACAATCT	NP_001171346.1:p.Ile14_Gly15insAsnAsnLeu
NR_130776.1:n.354+49664_354+49665insGATTGTTTA
NM_000439.5:c.182_183insAAACAATCT MANE Select	NP_000430.3:p.Ile61_Gly62insAsnAsnLeu
NM_001177875.2:c.41_42insAAACAATCT	NP_001171346.1:p.Ile14_Gly15insAsnAsnLeu