Canonical Allele Identifier: CA2739270445
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836782
ClinVar RCV Id: RCV003690267

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57600153_57600154del , CM000673.2:g.57600153_57600154del GRCh38
NC_000011.9:g.57367626_57367627del , CM000673.1:g.57367626_57367627del GRCh37
NC_000011.8:g.57124202_57124203del NCBI36
NG_009625.1:g.7600_7601del , LRG_105:g.7600_7601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278407.9:c.326_327del MANE Select ENSP00000278407.4:p.Leu109ProfsTer23
ENST00000528996.2:c.58+1825_58+1826del ENSP00000431226.2:n.58+1825_58+1826del
ENST00000531605.2:c.51+1832_51+1833del ENSP00000503752.1:n.51+1832_51+1833del
ENST00000619430.2:c.326_327del ENSP00000478572.2:p.Leu109ProfsTer23
ENST00000676670.1:c.326_327del ENSP00000504807.1:p.Leu109ProfsTer23
ENST00000676741.1:n.1408_1409del
ENST00000677275.1:n.313_314del
ENST00000677624.1:c.326_327del ENSP00000503979.1:p.Leu109ProfsTer23
ENST00000677625.1:c.326_327del ENSP00000502857.1:p.Leu109ProfsTer23
ENST00000677856.1:n.385_386del
ENST00000677915.1:c.326_327del ENSP00000503118.1:p.Leu109ProfsTer23
ENST00000678533.1:c.51+1832_51+1833del ENSP00000503873.1:n.51+1832_51+1833del
ENST00000678592.1:c.326_327del ENSP00000504424.1:p.Leu109ProfsTer23
ENST00000278407.8:c.326_327del ENSP00000278407.4:p.Leu109ProfsTer23
ENST00000340687.10:c.326_327del ENSP00000341861.6:p.Leu109ProfsTer23
ENST00000378323.8:c.341_342del ENSP00000367574.4:p.Leu114ProfsTer23
ENST00000378324.6:c.170_171del ENSP00000367575.2:p.Leu57ProfsTer23
ENST00000403558.1:c.428_429del ENSP00000384420.1:p.Leu143ProfsTer23
ENST00000405496.5:c.326_327del ENSP00000384561.1:p.Leu109ProfsTer23
ENST00000531133.5:c.51+1832_51+1833del ENSP00000435431.1:n.51+1832_51+1833del
ENST00000531797.5:c.51+1832_51+1833del ENSP00000432554.1:n.51+1832_51+1833del
ENST00000619430.1:c.326_327del ENSP00000478572.1:p.Leu109ProfsTer?
NM_000062.2:c.326_327del , LRG_105t1:c.326_327del NP_000053.2:p.Leu109ProfsTer23
NM_001032295.1:c.326_327del NP_001027466.1:p.Leu109ProfsTer23
NM_000062.3:c.326_327del MANE Select NP_000053.2:p.Leu109ProfsTer23
NM_001032295.2:c.326_327del NP_001027466.1:p.Leu109ProfsTer23