Canonical Allele Identifier: CA114099
Gene: SERPINF2 HGNC NCBI

Linked Data

dbSNP Id: rs121965061
gnomAD v4: 17-1747320-AAAG-A
MyVariant Identifiers: chr17:g.1650617_1650619del (hg19) chr17:g.1747323_1747325del (hg38)
PubMed: PMID:82839 PMID:2572590
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1747325_1747327del , CM000679.2:g.1747325_1747327del GRCh38
NC_000017.10:g.1650619_1650621del , CM000679.1:g.1650619_1650621del GRCh37
NC_000017.9:g.1597369_1597371del NCBI36
NG_013215.1:g.9490_9492del , LRG_885:g.9490_9492del

Transcript Alleles

HGVS Amino-acid change
ENST00000382061.5:c.528_530del ENSP00000371493.4:p.Glu176del
ENST00000453066.6:c.528_530del MANE Select ENSP00000402286.2:p.Glu176del
ENST00000324015.7:c.528_530del ENSP00000321853.3:p.Glu176del
ENST00000382061.4:c.528_530del ENSP00000371493.4:p.Glu176del
ENST00000450523.6:c.336_338del ENSP00000403877.2:p.Glu112del
ENST00000453066.5:c.528_530del ENSP00000402286.1:p.Glu176del
ENST00000453723.5:c.368-1273_368-1271del ENSP00000402056.1:n.368-1273_368-1271del
NM_000934.3:c.528_530del , LRG_885t1:c.528_530del NP_000925.2:p.Glu176del
NM_001165920.1:c.528_530del NP_001159392.1:p.Glu176del
NM_001165921.1:c.336_338del NP_001159393.1:p.Glu112del
XM_005256699.3:c.633_635del XP_005256756.1:p.Glu211del
XM_005256700.3:c.540_542del XP_005256757.1:p.Glu180del
XM_005256701.3:c.576_578del XP_005256758.2:p.Glu192del
XM_005256703.3:c.447_449del XP_005256760.1:p.Glu149del
XM_005256701.4:c.576_578del XP_005256758.2:p.Glu192del
XM_017024765.1:c.540_542del XP_016880254.1:p.Glu180del
XM_024450805.1:c.540_542del XP_024306573.1:p.Glu180del
NM_000934.4:c.528_530del MANE Select NP_000925.2:p.Glu176del
NM_001165921.2:c.336_338del NP_001159393.1:p.Glu112del
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