Canonical Allele Identifier: CA2573147261
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404535
ClinVar RCV Id: RCV001899034
dbSNP Id: rs2135324522

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611759del , CM000673.2:g.57611759del GRCh38
NC_000011.9:g.57379232del , CM000673.1:g.57379232del GRCh37
NC_000011.8:g.57135808del NCBI36
NG_009625.1:g.19206del , LRG_105:g.19206del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.1072del MANE Select ENSP00000278407.4:p.Leu358TrpfsTer6
ENST00000528996.2:c.92del ENSP00000431226.2:p.Pro31LeufsTer?
ENST00000531605.2:c.*848del ENSP00000503752.1:n.*848del
ENST00000619430.2:c.868del ENSP00000478572.2:p.Leu290TrpfsTer6
ENST00000676670.1:c.1072del ENSP00000504807.1:p.Leu358TrpfsTer6
ENST00000676741.1:n.2154del
ENST00000677624.1:c.*492del ENSP00000503979.1:n.*492del
ENST00000677625.1:c.1030-12del ENSP00000502857.1:n.1030-12del
ENST00000677856.1:n.1325del
ENST00000677915.1:c.728del ENSP00000503118.1:p.Pro243LeufsTer?
ENST00000678533.1:c.*626del ENSP00000503873.1:n.*626del
ENST00000678592.1:c.*12del ENSP00000504424.1:n.*12del
ENST00000278407.8:c.1072del ENSP00000278407.4:p.Leu358TrpfsTer6
ENST00000340687.10:c.1030-69del ENSP00000341861.6:n.1030-69del
ENST00000378323.8:c.1087del ENSP00000367574.4:p.Leu363TrpfsTer6
ENST00000378324.6:c.916del ENSP00000367575.2:p.Leu306TrpfsTer6
ENST00000403558.1:c.1201del ENSP00000384420.1:p.Leu401TrpfsTer6
ENST00000528996.1:c.273del ENSP00000431226.1:n.273del
ENST00000530113.1:n.529del
ENST00000531133.5:c.573del ENSP00000435431.1:n.573del
ENST00000531797.5:c.*97del ENSP00000432554.1:n.*97del
ENST00000619430.1:c.349-146del ENSP00000478572.1:n.349-146del
NM_000062.2:c.1072del , LRG_105t1:c.1072del NP_000053.2:p.Leu358TrpfsTer6
NM_001032295.1:c.1072del NP_001027466.1:p.Leu358TrpfsTer6
NM_000062.3:c.1072del MANE Select NP_000053.2:p.Leu358TrpfsTer6
NM_001032295.2:c.1072del NP_001027466.1:p.Leu358TrpfsTer6