Canonical Allele Identifier: CA915948107
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 690356
ClinVar RCV Id: RCV000851283
dbSNP Id: rs1590829763

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611867del , CM000673.2:g.57611867del GRCh38
NC_000011.9:g.57379340del , CM000673.1:g.57379340del GRCh37
NC_000011.8:g.57135916del NCBI36
NG_009625.1:g.19314del , LRG_105:g.19314del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.1180del MANE Select ENSP00000278407.4:p.Thr394LeufsTer3
ENST00000528996.2:c.*77del ENSP00000431226.2:n.*77del
ENST00000531605.2:c.*956del ENSP00000503752.1:n.*956del
ENST00000619430.2:c.976del ENSP00000478572.2:p.Thr326LeufsTer3
ENST00000676670.1:c.1180del ENSP00000504807.1:p.Thr394LeufsTer3
ENST00000676741.1:n.2262del
ENST00000677624.1:c.*600del ENSP00000503979.1:n.*600del
ENST00000677625.1:c.1126del ENSP00000502857.1:p.Thr376LeufsTer3
ENST00000677856.1:n.1433del
ENST00000677915.1:c.*77del ENSP00000503118.1:n.*77del
ENST00000678533.1:c.*734del ENSP00000503873.1:n.*734del
ENST00000678592.1:c.*120del ENSP00000504424.1:n.*120del
ENST00000278407.8:c.1180del ENSP00000278407.4:p.Thr394LeufsTer3
ENST00000340687.10:c.1069del ENSP00000341861.6:p.Thr357LeufsTer3
ENST00000378323.8:c.1195del ENSP00000367574.4:p.Thr399LeufsTer3
ENST00000378324.6:c.1024del ENSP00000367575.2:p.Thr342LeufsTer3
ENST00000403558.1:c.1309del ENSP00000384420.1:p.Thr437LeufsTer3
ENST00000528996.1:c.381del ENSP00000431226.1:n.381del
ENST00000530113.1:n.637del
ENST00000531133.5:c.681del ENSP00000435431.1:n.681del
ENST00000531797.5:c.*205del ENSP00000432554.1:n.*205del
ENST00000619430.1:c.349-38del ENSP00000478572.1:n.349-38del
NM_000062.2:c.1180del , LRG_105t1:c.1180del NP_000053.2:p.Thr394LeufsTer3
NM_001032295.1:c.1180del NP_001027466.1:p.Thr394LeufsTer3
NM_000062.3:c.1180del MANE Select NP_000053.2:p.Thr394LeufsTer3
NM_001032295.2:c.1180del NP_001027466.1:p.Thr394LeufsTer3