Canonical Allele Identifier: CA2709555242
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2112397103

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96399099_96399100insTG , CM000667.2:g.96399099_96399100insTG GRCh38
NC_000005.9:g.95734803_95734804insTG , CM000667.1:g.95734803_95734804insTG GRCh37
NC_000005.8:g.95760559_95760560insTG NCBI36
NG_021161.1:g.39182_39183insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1431-64_1431-63insCA MANE Select ENSP00000308024.2:n.1431-64_1431-63insCA
ENST00000311106.7:c.1431-64_1431-63insCA ENSP00000308024.2:n.1431-64_1431-63insCA
ENST00000508626.5:c.1290-64_1290-63insCA ENSP00000421600.1:n.1290-64_1290-63insCA
ENST00000513085.1:n.574-64_574-63insCA
NM_000439.4:c.1431-64_1431-63insCA NP_000430.3:n.1431-64_1431-63insCA
NM_001177875.1:c.1290-64_1290-63insCA NP_001171346.1:n.1290-64_1290-63insCA
NR_130776.1:n.354+19447_354+19448insTG
NM_000439.5:c.1431-64_1431-63insCA MANE Select NP_000430.3:n.1431-64_1431-63insCA
NM_001177875.2:c.1290-64_1290-63insCA NP_001171346.1:n.1290-64_1290-63insCA