Canonical Allele Identifier: CA1079027031
Gene: PCSK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392262_96392263insTAA , CM000667.2:g.96392262_96392263insTAA GRCh38
NC_000005.9:g.95727966_95727967insTAA , CM000667.1:g.95727966_95727967insTAA GRCh37
NC_000005.8:g.95753722_95753723insTAA NCBI36
NG_021161.1:g.46020_46021insTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*739_*740insTAT MANE Select ENSP00000308024.2:n.*739_*740insTAT
ENST00000311106.7:c.*739_*740insTAT ENSP00000308024.2:n.*739_*740insTAT
NM_000439.4:c.*739_*740insTAT NP_000430.3:n.*739_*740insTAT
NM_001177875.1:c.*739_*740insTAT NP_001171346.1:n.*739_*740insTAT
NR_130776.1:n.354+12610_354+12611insTAA
NM_000439.5:c.*739_*740insTAT MANE Select NP_000430.3:n.*739_*740insTAT
NM_001177875.2:c.*739_*740insTAT NP_001171346.1:n.*739_*740insTAT