Canonical Allele Identifier: CA2838032246
Gene: SERPING1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57602078_57602084del , CM000673.2:g.57602078_57602084del GRCh38
NC_000011.9:g.57369551_57369557del , CM000673.1:g.57369551_57369557del GRCh37
NC_000011.8:g.57126127_57126133del NCBI36
NG_009625.1:g.9525_9531del , LRG_105:g.9525_9531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.594_600del MANE Select ENSP00000278407.4:p.Tyr199ArgfsTer10
ENST00000528996.2:c.58+3750_58+3756del ENSP00000431226.2:n.58+3750_58+3756del
ENST00000531605.2:c.95_101del ENSP00000503752.1:p.Leu32GlnfsTer?
ENST00000619430.2:c.594_600del ENSP00000478572.2:p.Tyr199ArgfsTer10
ENST00000676670.1:c.594_600del ENSP00000504807.1:p.Tyr199ArgfsTer10
ENST00000676741.1:n.1676_1682del
ENST00000677275.1:n.581_587del
ENST00000677624.1:c.594_600del ENSP00000503979.1:p.Tyr199ArgfsTer10
ENST00000677625.1:c.594_600del ENSP00000502857.1:p.Tyr199ArgfsTer10
ENST00000677856.1:n.653_659del
ENST00000677915.1:c.594_600del ENSP00000503118.1:p.Tyr199ArgfsTer10
ENST00000678533.1:c.95_101del ENSP00000503873.1:p.Leu32GlnfsTer?
ENST00000678592.1:c.594_600del ENSP00000504424.1:p.Tyr199ArgfsTer10
ENST00000278407.8:c.594_600del ENSP00000278407.4:p.Tyr199ArgfsTer10
ENST00000340687.10:c.594_600del ENSP00000341861.6:p.Tyr199ArgfsTer10
ENST00000378323.8:c.609_615del ENSP00000367574.4:p.Tyr204ArgfsTer10
ENST00000378324.6:c.438_444del ENSP00000367575.2:p.Tyr147ArgfsTer10
ENST00000403558.1:c.696_702del ENSP00000384420.1:p.Tyr233ArgfsTer10
ENST00000531133.5:c.95_101del ENSP00000435431.1:p.Leu32GlnfsTer?
ENST00000531605.1:n.34_40del
ENST00000531797.5:c.95_101del ENSP00000432554.1:p.Leu32GlnfsTer?
ENST00000619430.1:c.348+1903_348+1909del ENSP00000478572.1:n.348+1903_348+1909del
NM_000062.2:c.594_600del , LRG_105t1:c.594_600del NP_000053.2:p.Tyr199ArgfsTer10
NM_001032295.1:c.594_600del NP_001027466.1:p.Tyr199ArgfsTer10
NM_000062.3:c.594_600del MANE Select NP_000053.2:p.Tyr199ArgfsTer10
NM_001032295.2:c.594_600del NP_001027466.1:p.Tyr199ArgfsTer10