Canonical Allele Identifier: CA122898637
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs34144066
MyVariant Identifiers: chr5:g.95727891_95727892insG (hg19) chr5:g.96392187_96392188insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392190dup , CM000667.2:g.96392190dup GRCh38
NC_000005.9:g.95727894dup , CM000667.1:g.95727894dup GRCh37
NC_000005.8:g.95753650dup NCBI36
NG_021161.1:g.46094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.*813dup MANE Select ENSP00000308024.2:n.*813dup
ENST00000311106.7:c.*813dup ENSP00000308024.2:n.*813dup
NM_000439.4:c.*813dup NP_000430.3:n.*813dup
NM_001177875.1:c.*813dup NP_001171346.1:n.*813dup
NR_130776.1:n.354+12538dup
NM_000439.5:c.*813dup MANE Select NP_000430.3:n.*813dup
NM_001177875.2:c.*813dup NP_001171346.1:n.*813dup
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