Canonical Allele Identifier: CA2767554378
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429372dup , CM000667.2:g.96429372dup GRCh38
NC_000005.9:g.95765076dup , CM000667.1:g.95765076dup GRCh37
NC_000005.8:g.95790832dup NCBI36
NG_021161.1:g.8911dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-54dup MANE Select ENSP00000308024.2:n.181-54dup
ENST00000311106.7:c.181-54dup ENSP00000308024.2:n.181-54dup
ENST00000508626.5:c.40-54dup ENSP00000421600.1:n.40-54dup
ENST00000509190.1:c.181-54dup ENSP00000427294.1:n.181-54dup
NM_000439.4:c.181-54dup NP_000430.3:n.181-54dup
NM_001177875.1:c.40-54dup NP_001171346.1:n.40-54dup
NR_130776.1:n.354+49720dup
NM_000439.5:c.181-54dup MANE Select NP_000430.3:n.181-54dup
NM_001177875.2:c.40-54dup NP_001171346.1:n.40-54dup