Canonical Allele Identifier: CA2767554377

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429361_96429362insCACCCAACAC , CM000667.2:g.96429361_96429362insCACCCAACAC	GRCh38
NC_000005.9:g.95765065_95765066insCACCCAACAC , CM000667.1:g.95765065_95765066insCACCCAACAC	GRCh37
NC_000005.8:g.95790821_95790822insCACCCAACAC	NCBI36
NG_021161.1:g.8920_8921insGTGTTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.181-45_181-44insGTGTTGGGTG MANE Select	ENSP00000308024.2:n.181-45_181-44insGTGTTGGGTG
ENST00000311106.7:c.181-45_181-44insGTGTTGGGTG	ENSP00000308024.2:n.181-45_181-44insGTGTTGGGTG
ENST00000508626.5:c.40-45_40-44insGTGTTGGGTG	ENSP00000421600.1:n.40-45_40-44insGTGTTGGGTG
ENST00000509190.1:c.181-45_181-44insGTGTTGGGTG	ENSP00000427294.1:n.181-45_181-44insGTGTTGGGTG
NM_000439.4:c.181-45_181-44insGTGTTGGGTG	NP_000430.3:n.181-45_181-44insGTGTTGGGTG
NM_001177875.1:c.40-45_40-44insGTGTTGGGTG	NP_001171346.1:n.40-45_40-44insGTGTTGGGTG
NR_130776.1:n.354+49709_354+49710insCACCCAACAC
NM_000439.5:c.181-45_181-44insGTGTTGGGTG MANE Select	NP_000430.3:n.181-45_181-44insGTGTTGGGTG
NM_001177875.2:c.40-45_40-44insGTGTTGGGTG	NP_001171346.1:n.40-45_40-44insGTGTTGGGTG