Canonical Allele Identifier: CA10627867
Gene: SERPINE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 358325
ClinVar RCV Id: RCV000386609
dbSNP Id: rs41423845
gnomAD v2: 7-100781711-T-TCGCGCCCCC
gnomAD v3: 7-101138430-T-TCGCGCCCCC
gnomAD v4: 7-101138430-T-TCGCGCCCCC
MyVariant Identifiers: chr7:g.100781720_100781728dupCCGCGCCCC (hg19) chr7:g.100781728_100781729insCCGCGCCCC (hg19) chr7:g.100781711_100781712insCGCGCCCCC (hg19) chr7:g.101138439_101138447dupCCGCGCCCC (hg38) chr7:g.101138447_101138448insCCGCGCCCC (hg38) chr7:g.101138430_101138431insCGCGCCCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.101138439_101138447dup , CM000669.2:g.101138439_101138447dup GRCh38
NC_000007.13:g.100781720_100781728dup , CM000669.1:g.100781720_100781728dup GRCh37
NC_000007.12:g.100568440_100568448dup NCBI36
NG_013213.1:g.16342_16350dup , LRG_597:g.16342_16350dup

Transcript Alleles

HGVS Amino-acid change
ENST00000223095.5:c.*997_*1005dup MANE Select ENSP00000223095.4:n.*997_*1005dup
ENST00000223095.4:c.*997_*1005dup ENSP00000223095.4:n.*997_*1005dup
NM_000602.4:c.*997_*1005dup , LRG_597t1:c.*997_*1005dup NP_000593.1:n.*997_*1005dup
NM_000602.5:c.*997_*1005dup MANE Select NP_000593.1:n.*997_*1005dup
NM_001386456.1:c.*997_*1005dup NP_001373385.1:n.*997_*1005dup
NM_001386457.1:c.*1008_*1016dup NP_001373386.1:n.*1008_*1016dup
NM_001386458.1:c.*997_*1005dup NP_001373387.1:n.*997_*1005dup
NM_001386459.1:c.*342_*350dup NP_001373388.1:n.*342_*350dup
NM_001386460.1:c.*342_*350dup NP_001373389.1:n.*342_*350dup
NM_001386461.1:c.*342_*350dup NP_001373390.1:n.*342_*350dup
NM_001386462.1:c.*997_*1005dup NP_001373391.1:n.*997_*1005dup
NM_001386463.1:c.*997_*1005dup NP_001373392.1:n.*997_*1005dup
NM_001386464.1:c.*1088_*1096dup NP_001373393.1:n.*1088_*1096dup
NM_001386465.1:c.*997_*1005dup NP_001373394.1:n.*997_*1005dup
NM_001386466.1:c.*997_*1005dup NP_001373395.1:n.*997_*1005dup
Search 100 bp 5'
Search 100 bp 3'