Canonical Allele Identifier: CA2767553906

Gene: PCSK1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399068_96399069insAACACCAAACACACCCAACACA , CM000667.2:g.96399068_96399069insAACACCAAACACACCCAACACA	GRCh38
NC_000005.9:g.95734772_95734773insAACACCAAACACACCCAACACA , CM000667.1:g.95734772_95734773insAACACCAAACACACCCAACACA	GRCh37
NC_000005.8:g.95760528_95760529insAACACCAAACACACCCAACACA	NCBI36
NG_021161.1:g.39214_39215insGTGTTGGGTGTGTTTGGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT MANE Select	ENSP00000308024.2:n.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT
ENST00000311106.7:c.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT	ENSP00000308024.2:n.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT
ENST00000508626.5:c.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT	ENSP00000421600.1:n.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT
ENST00000513085.1:n.574-32_574-31insGTGTTGGGTGTGTTTGGTGTTT
NM_000439.4:c.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT	NP_000430.3:n.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT
NM_001177875.1:c.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT	NP_001171346.1:n.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT
NR_130776.1:n.354+19416_354+19417insAACACCAAACACACCCAACACA
NM_000439.5:c.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT MANE Select	NP_000430.3:n.1431-32_1431-31insGTGTTGGGTGTGTTTGGTGTTT
NM_001177875.2:c.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT	NP_001171346.1:n.1290-32_1290-31insGTGTTGGGTGTGTTTGGTGTTT