Canonical Allele Identifier: CA576469413
Gene: SERPINE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 487667
ClinVar RCV Id: RCV000577196
dbSNP Id: rs1194865614
gnomAD v2: 7-100775346-C-CTA
gnomAD v4: 7-101132065-C-CTA
MyVariant Identifiers: chr7:g.100775349_100775350dup (hg19) chr7:g.100775346_100775347insTA (hg19) chr7:g.101132068_101132069dup (hg38) chr7:g.101132065_101132066insTA (hg38)
PubMed: PMID:1435917 PMID:28771291
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101132068_101132069dup , CM000669.2:g.101132068_101132069dup GRCh38
NC_000007.13:g.100775349_100775350dup , CM000669.1:g.100775349_100775350dup GRCh37
NC_000007.12:g.100562069_100562070dup NCBI36
NG_013213.1:g.9971_9972dup , LRG_597:g.9971_9972dup

Transcript Alleles

HGVS Amino-acid change
ENST00000223095.5:c.699_700dup MANE Select ENSP00000223095.4:p.Thr234IlefsTer?
ENST00000223095.4:c.699_700dup ENSP00000223095.4:p.Thr234IlefsTer?
NM_000602.4:c.699_700dup , LRG_597t1:c.699_700dup NP_000593.1:p.Thr234IlefsTer?
NM_000602.5:c.699_700dup MANE Select NP_000593.1:p.Thr234IlefsTer?
NM_001386456.1:c.447_448dup NP_001373385.1:p.Thr150IlefsTer?
NM_001386457.1:c.699_700dup NP_001373386.1:p.Thr234IlefsTer?
NM_001386458.1:c.699_700dup NP_001373387.1:p.Thr234IlefsTer?
NM_001386459.1:c.699_700dup NP_001373388.1:p.Thr234IlefsTer?
NM_001386460.1:c.699_700dup NP_001373389.1:p.Thr234IlefsTer?
NM_001386461.1:c.699_700dup NP_001373390.1:p.Thr234IlefsTer?
NM_001386462.1:c.498_499dup NP_001373391.1:p.Thr167IlefsTer?
NM_001386463.1:c.693_694dup NP_001373392.1:p.Thr232IlefsTer?
NM_001386464.1:c.699_700dup NP_001373393.1:p.Thr234IlefsTer?
NM_001386465.1:c.699_700dup NP_001373394.1:p.Thr234IlefsTer?
NM_001386466.1:c.723_724dup NP_001373395.1:p.Thr242IlefsTer?
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