Canonical Allele Identifier: CA815895267
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs1342007247
gnomAD v4: 5-96429356-C-CA
MyVariant Identifiers: chr5:g.95765060_95765061insA (hg19) chr5:g.96429356_96429357insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429359dup , CM000667.2:g.96429359dup GRCh38
NC_000005.9:g.95765063dup , CM000667.1:g.95765063dup GRCh37
NC_000005.8:g.95790819dup NCBI36
NG_021161.1:g.8925dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-40dup MANE Select ENSP00000308024.2:n.181-40dup
ENST00000311106.7:c.181-40dup ENSP00000308024.2:n.181-40dup
ENST00000508626.5:c.40-40dup ENSP00000421600.1:n.40-40dup
ENST00000509190.1:c.181-40dup ENSP00000427294.1:n.181-40dup
NM_000439.4:c.181-40dup NP_000430.3:n.181-40dup
NM_001177875.1:c.40-40dup NP_001171346.1:n.40-40dup
NR_130776.1:n.354+49707dup
NM_000439.5:c.181-40dup MANE Select NP_000430.3:n.181-40dup
NM_001177875.2:c.40-40dup NP_001171346.1:n.40-40dup
Search 100 bp 5'
Search 100 bp 3'