Canonical Allele Identifier: CA1565418238
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1761426998

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429561_96429562insGT , CM000667.2:g.96429561_96429562insGT GRCh38
NC_000005.9:g.95765265_95765266insGT , CM000667.1:g.95765265_95765266insGT GRCh37
NC_000005.8:g.95791021_95791022insGT NCBI36
NG_021161.1:g.8720_8721insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-245_181-244insAC MANE Select ENSP00000308024.2:n.181-245_181-244insAC
ENST00000311106.7:c.181-245_181-244insAC ENSP00000308024.2:n.181-245_181-244insAC
ENST00000508626.5:c.40-245_40-244insAC ENSP00000421600.1:n.40-245_40-244insAC
ENST00000509190.1:c.181-245_181-244insAC ENSP00000427294.1:n.181-245_181-244insAC
NM_000439.4:c.181-245_181-244insAC NP_000430.3:n.181-245_181-244insAC
NM_001177875.1:c.40-245_40-244insAC NP_001171346.1:n.40-245_40-244insAC
NR_130776.1:n.354+49909_354+49910insGT
NM_000439.5:c.181-245_181-244insAC MANE Select NP_000430.3:n.181-245_181-244insAC
NM_001177875.2:c.40-245_40-244insAC NP_001171346.1:n.40-245_40-244insAC